Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LMNA (lamin A/C)
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All variants in the LMNA gene
The variants shown are described using the NM_170707.2 transcript reference sequence.
Legend
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Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Type
: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
ClassClinical
: ClassClinical
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Example
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Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
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Ser)$
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=""
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=""
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="p.0"
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!=""
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!=""
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!=""
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!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
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Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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475 entries on 5 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
01
c.-3_12del15
-
p.?
Deletion
-
GenBank
LMNA_00101
-
-
-
Qi Ming
./.
08
c.1458G>T/C
-
p.Lys486Asn
Substitution
-
GenBank
LMNA_00250
-
-
-
Qi Ming
./.
10
c.1609
-
-
Substitution
-
GenBank
LMNA_00183
-
This new heart
-
Qi Ming
./.
11
c.1761G>?
-
p.Leu587Leu
Substitution
-
GenBank
LMNA_00244
-
LMNA genetic variant identified by HRM analysis
-
Qi Ming
./.
11
c.1824C>?
-
p.Gly608Gly
Substitution
-
GenBank
LMNA_00098
-
The study of nuclear envelope functions is providing remarkable new insights into fundamental aspects of nuclear structure and dynamics.
-
Qi Ming
./.
02
c.357C>?
-
p.Arg119Arg
Substitution
-
GenBank
LMNA_00161
-
genetic variant identified by HRM analysis
-
Qi Ming
./.
03
c.585C>G/A
-
p.Asn195Lys
Substitution
-
GenBank
LMNA_00255
-
-
-
Qi Ming
./.
04
c.780G>C/T
-
p.Lys260Asn
Substitution
-
GenBank
LMNA_00257
-
-
-
Qi Ming
./.
05
c.861T>?
-
p.Ala287Ala
Substitution
-
GenBank
LMNA_00243
-
LMNA genetic variant identified by HRM analysis
-
Qi Ming
./.
01
c.?
-
p.?
Deletion
-
GenBank
LMNA_00225
-
This novel LMNA deletion causes a distinct, highly malignant cardiomyopathy with early-onset primary cardiac fibrosis likely due to an effect of the shortened mutant protein, which secondarily leads to arrhythmias and end-stage cardiac failure
-
Qi Ming
./.
00
c.?
-
p.?
Substitution
-
GenBank
LMNA_00087
-
The presence of short inverted sequence homologies at the breakpoint junctions suggested a mutational event involving serial replication slippage in trans during DNA replication.
-
Qi Ming
./.
01
c.11C>G
-
p.Pro4Arg
Substitution
-
GenBank
LMNA_00187
-
APS patients have a few overlapping but some distinct clinical features as comparedrnwith HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS pa-rntients seems not to be related to accumulation of mutant farnesylated prelamin A.
-
Qi Ming
./.
01
c.16C>T
-
p.Gln6X
Substitution
-
GenBank
LMNA_00004
-
This transition predicts a truncated lamin A/C composed of only the five amino-terminal amino acids. The mutation creates a new BfaI site, which was used to screen all family members.
-
Qi Ming
./.
01
c.16C>T
-
p.Gln6fsX
Substitution
-
GenBank
LMNA_00004
-
-
-
Qi Ming
./.
01
c.28_29insA
-
p.Thr10AsnfsX31
Insertion
-
GenBank
LMNA_00053
-
This is a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM.
-
Qi Ming
./.
01
c.29C>T
-
p.Thr10Ile
Substitution
-
GenBank
LMNA_00113
-
These patients extend the spectrum of abnormal phenotypes caused by LMNA mutations, which may complicate the clinical diagnosis of some patients with laminopathies, but suggest that LMNA is a good candidate for evaluation in patients with other atypical progeria phenotypes
-
Qi Ming
./.
01
c.29C>T
-
p.Thr10Ile
Substitution
-
GenBank
LMNA_00113
-
APS patients have a few overlapping but some distinct clinical features as compared with HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS pa- tients seems not to be related to accumulation of mutant farnesylated prelamin A.
-
Qi Ming
./.
01
c.29C>T
-
p.Thr10Ile
Substitution
-
GenBank
LMNA_00113
-
-
-
Qi Ming
./.
01
c.31del
-
p.Arg11AlafsX85
Deletion
-
GenBank
LMNA_00197
-
-
-
Qi Ming
./.
01
c.31delC
-
p.Arg11AlafsX85
Deletion
-
GenBank
LMNA_00051
-
The mutation leads to frame shift change.
-
Qi Ming
./.
01
c.51C>T
-
p.Ser17Ser
Substitution
-
GenBank
LMNA_00242
-
genetic variant identified by HRM analysis
-
Qi Ming
./.
01
c.73C>G
-
p.Arg25Gly
Substitution
-
GenBank
LMNA_00101
-
-
-
Qi Ming
./.
01
c.73C>G
-
p.Arg25Gly
Substitution
-
GenBank
LMNA_00101
-
-
-
Qi Ming
./.
01
c.73C>G
-
p.Arg25Gly
Substitution
-
GenBank
LMNA_00101
-
The mutation R25G in exon 1 of LMNA gene we reported here in a Chinese family had a phenotype of malignant arrhythmia and mild LGMD, suggesting that patients with familial DCM, conduction system defects and skeletal muscle dystrophy should be screened by genetic testing for the LMNA gene
-
Qi Ming
./.
01
c.73C>T
-
p.Arg25Cys
Substitution
-
GenBank
LMNA_00122
-
-
-
Qi Ming
./.
01
c.74G>C
-
p.Arg25Pro
Substitution
-
GenBank
LMNA_00012
-
The presence of this mutation removes a SfaNI recognition site from the exon 1 amplication product.
-
Qi Ming
./.
01
c.82C>T
-
p.Arg28Trp
Substitution
-
GenBank
LMNA_00078
-
-
-
Qi Ming
./.
01
c.82C>T
-
p.Arg28Trp
Substitution
-
GenBank
LMNA_00078
-
-
-
Qi Ming
./.
01
c.82C>T
-
p.Arg28Trp
Substitution
-
GenBank
LMNA_00078
-
-
-
Qi Ming
./.
01
c.82C>T
-
p.Arg28Trp
Substitution
-
GenBank
LMNA_00078
-
-
-
Qi Ming
./.
01
c.94_96delAAG
-
p.Lys32del
Deletion
-
GenBank
LMNA_00088
-
-
-
Qi Ming
./.
01
c.94_96delAAG
-
p.Lys32del
Deletion
-
GenBank
LMNA_00088
-
-
-
Qi Ming
./.
01
c.98A>G
-
p.Glu33Gly
Substitution
-
GenBank
LMNA_00109
-
To our knowledge, this is the first LMNA mutation to bernfound in an autosomal dominant form of CMT2, andrnimplies that LMNA is responsible for both autosomalrndominant and recessive forms of axonal Charcot-rnMarie-Tooth disease.
-
Qi Ming
./.
01
c.103C>G
-
p.Leu35Val
Substitution
-
GenBank
LMNA_00102
-
-
-
Qi Ming
./.
01
c.103C>G
-
p.Leu35Val
Substitution
-
GenBank
LMNA_00102
-
The fact that the p.L35P change leads to an L-CMD phenotype, whereas the p.L35V mutation leads to an EDMD phenotype, further demonstrates the challenge in predicting phenotype/ genotype correlations in laminopathies
-
Qi Ming
./.
01
c.104T>C
-
p.Leu35Pro
Substitution
-
GenBank
LMNA_00221
-
The fact that the p.L35P change leads to an L-CMD phenotype, whereas the p.L35V mutation leads to an EDMD phenotype, further demonstrates the challenge in predicting phenotype/ genotype correlations in laminopathies
-
Qi Ming
./.
01
c.115A>T
-
p.Asn39Tyr
Substitution
-
GenBank
LMNA_00204
-
it had notrnbeen identified previously, (ii) it was absent in more thanrn1000 normal chromosomes, and (iii) it concerns a highlyrnconserved nucleotide and amino acid within the LMNArngene and the lamin A/C protein.
-
Qi Ming
./.
01
c.127G>A
-
p.Ala43Thr
Substitution
-
GenBank
LMNA_00019
-
lamin A/C proteins with alteration at positions 43 may be defective in protein oligomerization.
-
Qi Ming
./.
01
c.134A>G
-
p.Tyr45Cys
Substitution
-
GenBank
LMNA_00061
-
-
-
Qi Ming
./.
01
c.139G>C
-
p.Asp47His
Substitution
-
GenBank
LMNA_00129
-
-
-
Qi Ming
./.
01
c.139G>T
-
p.Asp47Tyr
Substitution
-
GenBank
LMNA_00190
-
patient with the LMNA D47Y mutation exhibited clinical signs of premature ageing
-
Qi Ming
./.
01
c.148C>A
-
p.Arg50Ser
Substitution
-
GenBank
LMNA_00013
-
The C148A mutation creates an additional AluI restriction endonuclease site within the exon 1 amplimer, allowing the rapid detection of this mutation in his daughter, who presented at age 24 with isolated quadricep weakness, and at age 28 with atrial and ventricular extrasystoles with no AV block.
-
Qi Ming
./.
01
c.148C>A
-
p.Arg50Ser
Substitution
-
GenBank
LMNA_00013
-
The study of nuclear envelope functions is providing remarkable new insights into fundamental aspects of nuclear structure and dynamics.
-
Qi Ming
./.
01
c.148C>A
-
p.Arg50Ser
Substitution
-
GenBank
LMNA_00013
-
The first report to suggest that the A-type lamin mutations may be differentially dysfunctional for the same LMNA mutation.
-
Qi Ming
./.
01
c.149G>C
-
p.Arg50Pro
Substitution
-
GenBank
LMNA_00062
-
-
-
Qi Ming
./.
01
c.155T>C
-
p.Leu52Pro
Substitution
-
GenBank
LMNA_00136
-
-
-
Qi Ming
./.
01
c.157G>A
-
p.Glu53Val
Substitution
-
GenBank
LMNA_00102
-
-
-
Qi Ming
./.
01
c.178C>G
-
p.Arg60Gly
Substitution
-
GenBank
LMNA_00009
-
Mutation Arg60Gly creates Sau 96I restriction enzyme site.
-
Qi Ming
./.
01
c.178C>G
-
p.Arg60Gly
Substitution
-
GenBank
LMNA_00009
-
It does not led to an increased loss of emerin from the nuclear envelope, compared to wild-type.
-
Qi Ming
./.
01
c.178C>G
-
p.Arg60Gly
Substitution
-
GenBank
LMNA_00009
-
The findings demonstrate that the exon 1 c.178 C/G, p.Arg 60 Gly LMNA gene mutation is associated with a novel phenotype featuring cardiac involvement followed by late lipodystrophy, diabetes, and peripheral axonal neuropathy.
-
Qi Ming
./.
01
c.178C>G
-
p.Arg60Gly
Substitution
-
GenBank
LMNA_00009
-
-
-
Qi Ming
./.
01
c.184C>G
-
p.Arg62Gly
Substitution
-
GenBank
LMNA_00079
-
-
-
Qi Ming
./.
01
c.184C>G
-
p.Arg62Gly
Substitution
-
GenBank
LMNA_00079
-
-
-
Qi Ming
./.
01
c.188T>A
-
p.Ile63Asn
Substitution
-
GenBank
LMNA_00076
-
-
-
Qi Ming
./.
01
c.188T>A
-
p.Ile63Asn
Substitution
-
GenBank
LMNA_00076
-
-
-
Qi Ming
./.
01
c.188T>G
-
p.Ile63Ser
Substitution
-
GenBank
LMNA_00063
-
-
-
Qi Ming
./.
01
c.188T>G
-
p.Ile63Ser
Substitution
-
GenBank
LMNA_00063
-
-
-
Qi Ming
./.
01
c.202_207del
-
p.Glu68_Val69del
Deletion
-
GenBank
LMNA_00247
-
-
-
Qi Ming
./.
01
c.244G>A
-
p.Glu82Lys
Substitution
-
GenBank
LMNA_00099
-
-
-
Qi Ming
./.
01
c.244G>A
-
p.Glu82Lys
Substitution
-
GenBank
LMNA_00099
-
-
-
Qi Ming
./.
01
c.244G>A
-
p.Glu82Lys
Substitution
-
GenBank
LMNA_00099
-
-
-
Qi Ming
./.
01
c.254T>G
-
p.Leu85Arg
Substitution
-
GenBank
LMNA_00008
-
The Leu85Arg mutation (in Family C) abolishes a Sac I restriction-enzyme site.
-
Qi Ming
./.
01
c.254T>G
-
p.Leu85Arg
Substitution
-
GenBank
LMNA_00008
-
Of the four lamin A mutants that we have examined,only lamin A L85R (LaA L85R) showed any obvious preponderance of lamin A0 over mature lamin A (1.6-fold relative to wild-type).
-
Qi Ming
./.
01
c.254T>G
-
p.Leu85Arg
Substitution
-
GenBank
LMNA_00008
-
-
-
Qi Ming
./.
01
c.266G>T
-
p.Arg89Leu
Substitution
-
GenBank
LMNA_00030
-
The subsititution leads to Arg89Leu.
-
Qi Ming
./.
01
c.266G>T
-
p.Arg89Leu
Substitution
-
GenBank
LMNA_00030
-
-
-
Qi Ming
./.
01
c.266G>T
-
p.Arg89Leu
Substitution
-
GenBank
LMNA_00030
-
-
-
Qi Ming
./.
01
c.266G>T
-
p.Arg89Leu
Substitution
-
GenBank
LMNA_00030
-
-
-
Qi Ming
./.
01
c.274C>T
-
p.Leu92Phe
Substitution
-
GenBank
LMNA_00191
-
-
-
Qi Ming
./.
01
c.274C>T
-
p.Leu92Phe
Substitution
-
GenBank
LMNA_00191
-
They exhibited prelamin A accumulation, increased oxidative stress, decreased expression of mitochondrial respiratory chain proteins and premature cellular senescence
-
Qi Ming
./.
01
c.274C>T
-
p.Leu92Phe
Substitution
-
GenBank
LMNA_00191
-
-
-
Qi Ming
./.
01
c.289A>G
-
p.Lys97Glu
Substitution
-
GenBank
LMNA_00025
-
The presence of the mutation can be seen in the normal person of the patients' family.
-
Qi Ming
./.
01
c.289A>G
-
p.Lys97Glu
Substitution
-
GenBank
LMNA_00025
-
The mutation transforms Lys to Glu.
-
Qi Ming
./.
01
c.289A>G
-
p.Lys97Glu
Substitution
-
GenBank
LMNA_00025
-
-
-
Qi Ming
./.
01
c.302G>C
-
p.Arg101Pro
Substitution
-
GenBank
LMNA_00190
-
-
-
Qi Ming
./.
01
c.302G>C
-
p.Arg101Pro
Substitution
-
GenBank
LMNA_00190
-
-
-
Qi Ming
./.
01
c.302G>C
-
p.Arg101Pro
Substitution
-
GenBank
LMNA_00190
-
This is the first report of limb girdle muscular dystrophy with cardiac disorders shown to harbor a mutation of the lamin A/C gene in a Taiwanese family.
-
Qi Ming
./.
01
c.305T>C
-
p.Leu102Pro
Substitution
-
GenBank
LMNA_00142
-
-
-
Qi Ming
./.
01
c.331G>A
-
p.Glu111Lys
Substitution
-
GenBank
LMNA_00109
-
APS patients have a few overlapping but some distinct clinical features as compared with HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS pa- tients seems not to be related to accumulation of mutant farnesylated prelamin A.
-
Qi Ming
./.
01
c.331G>T
-
p.Glu111X
Substitution
-
GenBank
LMNA_00024
-
The presence of the mutation can be seen in the normal person of the patients' family.
-
Qi Ming
./.
01
c.331G>T
-
p.Glu111fsX
Substitution
-
GenBank
LMNA_00024
-
-
-
Qi Ming
./.
01
c.334_336delGAG
-
p.Glu112del
Deletion
-
GenBank
LMNA_00064
-
-
-
Qi Ming
./.
01
c.334_336delGAG
-
p.Glu112del
Deletion
-
GenBank
LMNA_00064
-
-
-
Qi Ming
./.
02
c.357-20C>T
-
-
Substitution
-
GenBank
LMNA_00160
-
genetic variant identified by HRM analysis
-
Qi Ming
./.
02
c.357-1G>A
-
-
Substitution
-
GenBank
LMNA_00205
-
-
-
Qi Ming
./.
02
c.357-1G>T
-
-
Substitution
-
GenBank
LMNA_00251
-
-
-
Qi Ming
./.
02
c.374G>C
-
p.Gly125Ala
Substitution
-
GenBank
LMNA_00143
-
-
-
Qi Ming
./.
02
c.383_384ins24
-
p.Ile128_Ala129insRVTLISSR
Insertion
-
GenBank
LMNA_00245
-
A cohort of 64 patients with dilated cardiomyopathy was prospectively screened using both HRM and DHPLC methodologies.
-
Qi Ming
./.
02
c.394G>C
-
p.Ala132Pro
Substitution
-
GenBank
LMNA_00210
-
novel mutation
-
Qi Ming
./.
02
c.398G>C
-
p.Arg133Pro
Substitution
-
GenBank
LMNA_00020
-
The G398C mutation creates/destroys recognition site for enzymes MspAI.
-
Qi Ming
./.
02
c.398G>C
-
p.Arg133Pro
Substitution
-
GenBank
LMNA_00020
-
The first report to suggest that the A-type lamin mutations may be differentially dysfunctional for the same LMNA mutation.
-
Qi Ming
./.
02
c.398G>T
-
p.Arg133Leu
Substitution
-
GenBank
LMNA_00034
-
Atypical Werner
-
Qi Ming
./.
02
c.405_425dup
-
p.Lys135_Leu141dup
Duplication
-
GenBank
LMNA_00189
-
a novel in-frame insertion,heterozygous mutation.
-
Qi Ming
./.
02
c.406G>C
-
p.Asp136His
Substitution
-
GenBank
LMNA_00185
-
APS patients have a few overlapping but some distinct clinical features as comparedrnwith HGPS and mandibuloacral dysplasia. The pathogenesis of clinical manifestations in APS pa-rntients seems not to be related to accumulation of mutant farnesylated prelamin A.
-
Qi Ming
./.
02
c.419T>C
-
p.Leu140Pro
Substitution
-
GenBank
LMNA_00075
-
-
-
Qi Ming
./.
02
c.419T>C
-
p.Leu140Pro
Substitution
-
GenBank
LMNA_00075
-
-
-
Qi Ming
./.
02
c.427T>C
-
p.Ser143Pro
Substitution
-
GenBank
LMNA_00134
-
A novel mutation S143P in the lamin A/C gene was found to be common among Finnish DCM patients. Haplotype analysis strongly suggests a founder effect of this mutation.
-
Qi Ming
./.
02
c.427T>C
-
p.Ser143Pro
Substitution
-
GenBank
LMNA_00134
-
-
-
Qi Ming
./.
02
c.428C>T
-
p.Ser143Phe
Substitution
-
GenBank
LMNA_00092
-
-
-
Qi Ming
./.
02
c.433G>A
-
p.Glu145Lys
Substitution
-
GenBank
LMNA_00085
-
The study of nuclear envelope functions is providing remarkable new insights into fundamental aspects of nuclear structure and dynamics.
-
Qi Ming
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