Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
MMACHC (methylmalonic aciduria (cobalamin deficien...))
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
View MMACHC gene homepage
View graphs about the MMACHC gene database
Create a new gene entry
View all transcripts
View all transcripts of gene MMACHC
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene MMACHC
View all variants in gene MMACHC
Full data view for gene MMACHC
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene MMACHC
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene MMACHC
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene MMACHC
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Unique variants in the MMACHC gene
The variants shown are described using the NM_015506.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
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.
Reported
: The number of times this variant has been reported in the database.
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
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
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
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:
Example
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
76 entries on 1 page. Showing entries 1 - 76.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
00
c.-234A>G
-
-
unknown
-
GenBank
MMACHA_00008
1/3
5' Geneflanking
-
Qi Ming
./.
1
01
c.-82-69delG
-
-
unknown
-
GenBank
MMACHC_00060
N.D
Intron
-
Qi Ming
./.
1
03
c.?
-
p.His122Ala
unknown
-
GenBank
MMACHA_00006
-
Exon
-
Qi Ming
./.
4
01
c.1A>G
-
p.Met1Val
unknown
-
GenBank
MMACHC_00046
-
Exon
-
Qi Ming
./.
1
01
c.1A>T
-
p.Met1Leu
cultured fibroblast
-
GenBank
MMACHC_00017
-
Exon
-
Qi Ming
./.
10
01
c.3G>A
-
p.Met1Ile
unknown, blood, cultured fibroblast, Italian
-
GenBank
MMACHC_00007
-
Exon
-
Qi Ming
./.
1
01
c.14_24del11
-
p.Val5GlufsX25
unknown
-
GenBank
MMACHC_00047
-
Exon
-
Qi Ming
./.
2
01
c.80A>G
-
P.Gln27Arg
cultured fibroblast, unknown
-
GenBank
MMACHC_00018
-
Exon
-
Qi Ming
./.
2
01
c.81+1G>A
-
-
cultured fibroblast, blood
-
GenBank
MMACHC_00042
-
Intron
-
Qi Ming
./.
1
01
c.82-135C>G
-
-
unknown
-
GenBank
MMACHC_00059
0.500
Intron
-
Qi Ming
./.
3
02
c.82-9_82-12delTTTC
-
p.?
cultured fibroblast, unknown
-
GenBank
MMACHA_00004
-
Intron
-
Qi Ming
./.
1
02
c.82-1G>A
-
-
unknown
-
GenBank
MMACHC_00057
-
Intron
-
Qi Ming
./.
1
02
c.90G>A
-
p.Trp30X
blood
-
GenBank
MMACHC_00009
-
Exon
-
Qi Ming
./.
1
02
c.122dupT
-
p.Leu41LeufsX20
unknown
-
GenBank
MMACHC_00048
-
Exon
-
Qi Ming
./.
1
02
c.126_141del16
-
p.Pro42ProfsX29
unknown
-
GenBank
MMACHC_00049
-
Exon
-
Qi Ming
./.
1
02
c.145G>C
-
p.Ala49Pro
unknown
-
GenBank
MMACHC_00050
-
Exon
-
Qi Ming
./.
1
02
c.146_154delCCTTCCTGG
-
p.Ala49_Leu51del
unknown
-
GenBank
MMACHA_00007
-
Exon
-
Qi Ming
./.
1
02
c.178G>C
-
p.Asp60His
unknown
-
GenBank
MMACHC_00061
N.D
Exon
-
Qi Ming
./.
11
02
c.217C>T
-
p.Arg73X
blood, cultured fibroblast, unknown
-
GenBank
MMACHC_00008
-
Exon
-
Qi Ming
./.
88
02
c.271dupA
-
p.Arg91LysfsX14
unknown, blood, cultured fibroblast, fibroblast, EVB-infected lymphocytes
-
GenBank
MMACHC_00005
-
Exon
-
Qi Ming
./.
1
03
c.277-190C>T
-
-
unknown
-
GenBank
MMACHC_00062
N.D
Intron
-
Qi Ming
./.
1
03
c.277-72delC
-
-
unknown
-
GenBank
MMACHC_00063
N.D
Intron
-
Qi Ming
./.
1
03
c.277-49A>G
-
-
unknown
-
GenBank
MMACHC_00064
0.027
Intron
-
Qi Ming
./.
1
03
c.285dupA
-
p.Glu96ArgfsX9
unknown
-
GenBank
MMACHC_00044
-
Exon
-
Qi Ming
./.
1
03
c.321G>A
-
p.Val107Val
unknown
-
GenBank
MMACHC_00065
0.499
Exon
-
Qi Ming
./.
10
03
c.328_331delAACC
-
p.Asn110AspfsX13
cultured fibroblast, unknown, blood
-
GenBank
MMACHC_00031
-
Exon
-
Qi Ming
./.
25
03
c.331C>T
-
p.Arg111X
unknown, blood, cultured fibroblast
-
GenBank
MMACHC_00002
1/7
Exon
-
Qi Ming
./.
4
03
c.347T>C
-
p.Leu116pro
cultured fibroblast, EVB-infected lymphocytes, unknown
-
GenBank
MMACHC_00022
-
Exon
-
Qi Ming
./.
1
03
c.352delC
-
p.Gln118ArgfsX6
cultured fibroblast
-
GenBank
MMACHC_00023
-
Exon
-
Qi Ming
./.
1
03
c.365A>T
-
p.His122Leu
unknown
-
GenBank
MMACHA_00001
-
Exon
-
Qi Ming
./.
2
03
c.388T>C
-
p.Tyr130His
unknown, cultured fibroblast
-
GenBank
MMACHC_00014
-
Exon
-
Qi Ming
./.
2
03
c.388_390delTAC
-
p.Tyr130del
cultured fibroblast
-
GenBank
MMACHC_00024
-
Exon
-
Qi Ming
./.
1
03
c.389A>G
-
p.Tyr130Cys
unknown
-
GenBank
MMACHC_00052
-
Exon
-
Qi Ming
./.
1
03
c.391C>T
-
p.Gln131X
cultured fibroblast
-
GenBank
MMACHC_00025
-
Exon
-
Qi Ming
./.
36
03
c.394C>T
-
p.Arg132X
unknown, skin fibroblasts, blood, cultured fibroblast, fibroblast
-
GenBank
MMACHC_00004
-
Exon
-
Qi Ming
./.
1
03
c.398_399delAA
-
p.Gln133ArgfsX5
cultured fibroblast
-
GenBank
MMACHC_00034
-
Exon
-
Qi Ming
./.
2
03
c.420G>A
-
p.Trp140X
cultured fibroblast
-
GenBank
MMACHC_00026
-
Exon
-
Qi Ming
./.
1
04
c.433A>T
-
p.Ile145Leu
unknown
-
GenBank
MMACHC_00066
N.D
Exon
-
Qi Ming
./.
2
04
c.435_436delAT
-
p.Ile145IlefsX36
cultured fibroblast, unknown
-
GenBank
MMACHC_00036
-
Exon
-
Qi Ming
./.
6
04
c.440G>A
-
p.Gly147Asp
cultured fibroblast, unknown
-
GenBank
MMACHC_00027
-
Exon
-
Qi Ming
./.
4
04
c.440G>C
-
p.Gly147Ala
cultured fibroblast, fibroblast, unknown
-
GenBank
MMACHC_00028
-
Exon
-
Qi Ming
./.
1
04
c.450_479dup30
-
p.Ile150_Ala169dup
cultured fibroblast
-
GenBank
MMACHC_00035
-
Exon
-
Qi Ming
./.
9
04
c.457C>T
-
p.Arg153X
blood, unknown, cultured fibroblast
-
GenBank
MMACHC_00010
-
Exon
-
Qi Ming
./.
1
04
c.467G>A
-
p.Gly156Asp
cultured fibroblast
-
GenBank
MMACHC_00032
-
Exon
-
Qi Ming
./.
5
04
c.468_469delCT
-
p.Gly156GlyfsX25, p.Trp156ValfsX25
unknown, cultured fibroblast
-
GenBank
MMACHC_00015
-
Exon
-
Qi Ming
./.
1
04
c.471G>A
-
p.Trp157X
unknown
-
GenBank
MMACHC_00054
-
Exon
-
Qi Ming
./.
1
04
c.471G>C
-
p.Trp157Cys
cultured fibroblast
-
GenBank
MMACHC_00033
-
Exon
-
Qi Ming
./.
1
04
c.481C>G
-
p.Arg161Gly
cultured fibroblast
-
GenBank
MMACHC_00037
-
Exon
-
Qi Ming
./.
12
04
c.481C>T
-
p.Arg161X
blood, unknown, cultured fibroblast, Italian
-
GenBank
MMACHC_00011
-
Exon
-
Qi Ming
./.
19
04
c.482G>A
-
p.Arg161Gln
unknown, cultured fibroblast, blood, fibroblast
-
GenBank
MMACHC_00016
-
Exon
-
Qi Ming
./.
1
04
c.487_489delGTA
-
p.Val163del
unknown
-
GenBank
MMACHC_00055
-
Exon
-
Qi Ming
./.
1
04
c.507_519del13
-
p.Ile169IlefsX37
unknown
-
GenBank
MMACHC_00053
-
Exon
-
Qi Ming
./.
2
04
c.536_537insAT
-
p.Pro179ProfsX3
unknown
-
GenBank
MMACHC_00058
-
Exon
-
Qi Ming
./.
1
04
c.544T>C
-
p.Cys182Arg
unknown
-
GenBank
MMACHC_00013
-
Exon
-
Qi Ming
./.
3
04
c.547_548delGT
-
p.Val183ThrfsX5
cultured fibroblast, unknown
-
GenBank
MMACHC_00001
-
Exon
-
Qi Ming
./.
3
04
c.565C>A
-
p.Arg189Ser
blood, unknown, cultured fibroblast
-
GenBank
MMACHC_00012
-
Exon
-
Qi Ming
./.
2
04
c.565delC
-
p.Arg189ValfsX21
cultured fibroblast, unknown
-
GenBank
MMACHC_00038
-
Exon
-
Qi Ming
./.
4
04
c.567dupT
-
p.Ile190TysfsX13, p.Ile190TyrfsX13
unknown
-
GenBank
MMACHC_00045, MMACHC_00051
-
Exon
-
Qi Ming
./.
3
04
c.578T>C
-
p.Leu193pro
cultured fibroblast
-
GenBank
MMACHC_00039
-
Exon
-
Qi Ming
./.
2
04
c.600G>A
-
p.Trp200X
cultured fibroblast, unknown
-
GenBank
MMACHC_00029
-
Exon
-
Qi Ming
./.
3
04
c.608G>A
-
p.Trp203X
cultured fibroblast, unknown
-
GenBank
MMACHC_00040
-
Exon
-
Qi Ming
./.
20
04
c.609G>A
-
p.Trp203X
cultured fibroblast, unknown
-
GenBank
MMACHC_00021
-
Exon
-
Qi Ming
./.
10
04
c.615C>G
-
p.Tyr205X
unknown, blood, cultured fibroblast
-
GenBank
MMACHC_00006
-
Exon
-
Qi Ming
./.
1
04
c.616C>A
-
p.Arg206Arg
unknown
-
GenBank
MMACHC_00056
-
Exon
-
Qi Ming
./.
1
04
c.617G>C
-
p.Arg206Pro
cultured fibroblast
-
GenBank
MMACHC_00041
-
Exon
-
Qi Ming
./.
1
04
c.658_659delAA
-
p.Lys220GlyfsX24
cultured fibroblast
-
GenBank
MMACHC_00030
-
Exon
-
Qi Ming
./.
4
04
c.658_660delAAG
-
p.Lys220del
unknown
-
GenBank
MMACHC_00043
-
Exon
-
Qi Ming
./.
14
04
c.666C>A
-
p.Tyr222X
unknown, cultured fibroblast
-
GenBank
MMACHC_00003
1/7
Exon
-
Qi Ming
./.
1
04
c.738C>T
-
p.Pro246Pro
unknown
-
GenBank
MMACHC_00067
0.059
Exon
-
Qi Ming
./.
1
04
c.799C>T
-
p.Arg267Trp
unknown
-
GenBank
MMACHC_00068
0.011
Exon
-
Qi Ming
./.
1
04
c.811A>G
-
p.Ser271Gly
unknown
-
GenBank
MMACHC_00069
0.052
Exon
-
Qi Ming
./.
1
04
c.830C>A
-
p.pro277His
unknown
-
GenBank
MMACHC_00070
-
Exon
-
Qi Ming
./.
1
00
c.*39C>T
-
-
unknown
-
GenBank
MMACHC_00071
N.D
3' UTR
-
Qi Ming
./.
1
00
c.*217_*218ins5
-
-
unknown
-
GenBank
MMACHC_00072
N.D
3' UTR
-
Qi Ming
./.
1
00
c.*269A>G
-
-
unknown
-
GenBank
MMACHC_00073
0.052
3' UTR
-
Qi Ming
./.
1
00
c.*279A>G
-
-
unknown
-
GenBank
MMACHC_00074
0.390
3' UTR
-
Qi Ming
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center