Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
GLA (galactosidase, alpha)
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Unique variants in the GLA gene
The variants shown are described using the NM_000169.2 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
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Arg
all entries containing 'Arg'
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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'
$
Text
Ser)$
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=""
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all entries with this field empty
=""
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all entries exactly matching '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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439 entries on 5 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
07
c.1000-1G>?
-
-
IVS6-1
-
GenBank
GLA_00560
-
-
-
Qi Ming
./.
1
01
c.134_138TGCAC>GCTCG
-
p.Leu45Arg;p.His46Ser
g1312TGCAC -- GCTCG
-
GenBank
GLA_00056
-
-
-
Qi Ming
./.
1
05
c.801G>?
-
-
M267I
-
GenBank
GLA_00563
-
-
-
Qi Ming
./.
1
06
c.888G>?
-
p.Met296Ile
M296I
-
GenBank
GLA_00561
-
-
-
Qi Ming
./.
1
06
c.999+2T>?
-
-
IVS6+2
-
GenBank
GLA_00557
-
-
-
Qi Ming
./.
31
07, 03, 05, 06, 00, 04, 01, 02
c.?
-
p.Pro6X, p.His302X, p.Ile303X, p.Phe396X, p.Tyr123Met, p.Trp204X, p.?
c.1149_1150insA, c.1152delC, c.429 del(-77)CAGCC(-81), 773A2 , 2 bp, 954ins5 , dup 5 bp, 1208A3 , 3 bp,
25 more items
-
GenBank
GLA_00008
-
intron 2 (c. 429 del(-77) CAGCC(-81) [IVS2 del(-77) CAGCC(-81)]),,
1 more item
-
Qi Ming
./.
1
07
c.c.1081_1100del
-
p.Gly361ArgfsX7
-
-
GenBank
GLA_00556
-
-
-
Qi Ming
./.
1
01
c.2T>C
-
p.Met1Thr
T to C transversion in exon 1
-
GenBank
GLA_00430
-
-
-
Qi Ming
./.
2
01
c.2T>G
-
p.Met1Arg
M1T
-
GenBank
GLA_00027
-
a T-to-G transversion in codon 1, predicting a methionine-to-threonine substitution (MIT);
-
Qi Ming
./.
2
01
c.3G>A
-
p.Met1Ile
-
-
GenBank
GLA_00019
-
1 more item
-
Qi Ming
./.
1
01
c.8T>C
-
p.Leu3Pro
-
-
GenBank
GLA_00535
NA
-
-
Qi Ming
./.
1
01
c.18delA
-
p.Glu7AsnfsX114
-
-
GenBank
GLA_00268
-
-
-
Qi Ming
./.
1
01
c.24A>G
-
p.Leu8Leu
-
-
GenBank
GLA_00503
-
-
-
Qi Ming
./.
1
01
c.25del
-
p.His9IlefsX112
-
-
GenBank
GLA_00362
-
-
-
Qi Ming
./.
2
01
c.26delA
-
p.His9LeufsX112
-
-
GenBank
GLA_00259
-
-
-
Qi Ming
./.
1
01
c.32delG
-
p.Gly11AlafsX110
30delG
-
GenBank
GLA_00373
-
-
-
Qi Ming
./.
1
01
c.34_57del24
-
p.Cys12_Leu19del
-
-
GenBank
GLA_00467
-
-
-
Qi Ming
./.
1
01
c.35_47del13
-
p.Cys12PhefsX105
-
-
GenBank
GLA_00235
-
-
-
Qi Ming
./.
2
01
c.41T>C
-
p.Leu14Pro
L14P
-
GenBank
GLA_00024
-
1 more item
-
Qi Ming
./.
2
01
c.47T>C
-
p.Leu16Pro
-
-
GenBank
GLA_00103
-
-
-
Qi Ming
./.
1
01
c.53T>C
-
p.Phe18Ser
-
-
GenBank
GLA_00116
-
-
-
Qi Ming
./.
1
01
c.56T>C
-
p.Leu19Pro
-
-
GenBank
GLA_00102
-
-
-
Qi Ming
./.
1
01
c.58G>C
-
p.Ala20Pro
-
-
GenBank
GLA_00014
-
This missense mutation is in the coding region for the signal peptide of a-galactosidase.
-
Qi Ming
./.
1
01
c.59_73del
-
p.Ala20_Trp24del
-
-
GenBank
GLA_00217
-
-
-
Qi Ming
./.
2
01
c.85dup
-
p.Ala29GlyfsX2
-
-
GenBank
GLA_00249, GLA_00427
-
-
-
Qi Ming
./.
1
01
c.85G>A
-
p.Ala29Thr
-
-
GenBank
GLA_00534
NA
-
-
Qi Ming
./.
2
01
c.92C>T
-
p.Ala31Val
-
-
GenBank
GLA_00028
-
1 more item
-
Qi Ming
./.
1
01
c.95T>C
-
p.Leu32Pro
-
-
GenBank
GLA_00504
-
-
-
Qi Ming
./.
6
01
c.101A>G
-
p.Asn34Ser
A to G transversion in exon 1
-
GenBank
GLA_00168
-
-
Qi Ming
./.
1
01
c.103G>A
-
p.Gly35Arg
-
-
GenBank
GLA_00508
-
-
-
Qi Ming
./.
1
01
c.118C>T
-
p.Pro40Ser
-
-
GenBank
GLA_00377
-
-
-
Qi Ming
./.
1
01
c.119C>T
-
p.Pro40Leu
-
-
GenBank
GLA_00391
-
-
-
Qi Ming
./.
1
01
c.123_126dupCATG
-
p.Gly43HisfsX14
-
-
GenBank
GLA_00385
-
-
-
Qi Ming
./.
2
01
c.124A>C
-
p.Met42Leu
-
-
GenBank
GLA_00240
-
-
-
Qi Ming
./.
2
01
c.124A>G
-
p.Met42Val
-
-
GenBank
GLA_00160
-
-
-
Qi Ming
./.
1
01
c.124_125delAT
-
p.Met42GlyfsX13
-
-
GenBank
GLA_00425
-
-
-
Qi Ming
./.
1
01
c.125T>C
-
p.Met42Thr
-
-
GenBank
GLA_00247
-
-
-
Qi Ming
./.
1
01
c.125_137del13
-
p.Met42ThrfsX75
-
-
GenBank
GLA_00499
-
-
-
Qi Ming
./.
2
01
c.127G>C
-
p.Gly43Arg
-
-
GenBank
GLA_00178
-
-
-
Qi Ming
./.
2
01
c.128G>A
-
p.Gly43Asp
-
-
GenBank
GLA_00059
-
-
-
Qi Ming
./.
3
01
c.131G>A
-
p.Trp44X
-
-
GenBank
GLA_00378
-
-
-
Qi Ming
./.
1
01
c.132G>T
-
p.Trp44Cys
G132T
-
GenBank
GLA_00001
-
-
-
Qi Ming
./.
1
01
c.136C>T
-
p.His46Tyr
C to T transversion in exon 1
-
GenBank
GLA_00061
-
-
-
Qi Ming
./.
3
01
c.137A>G
-
p.His46Arg
-
-
GenBank
GLA_00029
-
1 more item
-
Qi Ming
./.
1
01
c.139T>C
-
p.Trp47Arg
-
-
GenBank
GLA_00117
-
-
-
Qi Ming
./.
1
01
c.139T>G
-
p.Trp47Gly
T to G transversion in exon 1
-
GenBank
GLA_00440
-
-
-
Qi Ming
./.
1
01
c.141G>A
-
p.Trp47X
-
-
GenBank
GLA_00346
-
-
-
Qi Ming
./.
1
01
c.142G>A
-
p.Glu48Lys
-
-
GenBank
GLA_00313
-
-
-
Qi Ming
./.
1
01
c.145C>G
-
p.Arg49Gly
-
-
GenBank
GLA_00179
-
-
-
Qi Ming
./.
2
01
c.146G>C
-
p.Arg49Pro
G to C transversion in exon 1
-
GenBank
GLA_00194
-
-
-
Qi Ming
./.
1
01
c.146G>T
-
p.Arg49Leu
-
-
GenBank
GLA_00398
-
-
-
Qi Ming
./.
1
01
c.149T>G
-
p.Phe50Cys
-
-
GenBank
GLA_00062
-
-
-
Qi Ming
./.
3
01
c.152T>A
-
p.Met51Lys
T to A transversion in exon 1
-
GenBank
GLA_00401
-
-
-
Qi Ming
./.
1
01
c.154delT
-
p.Cys52AlafsX69
-
-
GenBank
GLA_00450
-
-
-
Qi Ming
./.
1
01
c.154T>A
-
p.Cys52Ser
-
-
GenBank
GLA_00500
-
-
-
Qi Ming
./.
2
01
c.154T>C
-
p.Cys52Arg
153T>C
-
GenBank
GLA_00023
-
1 more item
-
Qi Ming
./.
1
01
c.155G>A
-
p.Cys52Tyr
-
-
GenBank
GLA_00009
-
1 more item
-
Qi Ming
./.
1
01
c.155G>C
-
p.Cys52Ser
-
-
GenBank
GLA_00353
-
-
-
Qi Ming
./.
1
01
c.156C>A
-
p.Cys52X
-
-
GenBank
GLA_00234
-
-
-
Qi Ming
./.
1
01
c.161T>C
-
p.Leu54Pro
-
-
GenBank
GLA_00118
-
-
-
Qi Ming
./.
1
01
c.162delT
-
p.Asp55ThrfsX66
-
-
GenBank
GLA_00146
-
-
-
Qi Ming
./.
2
01
c.166T>G
-
p.Cys56Gly
-
-
GenBank
GLA_00169
-
-
-
Qi Ming
./.
1
01
c.167G>A
-
p.Cys56Tyr
-
-
GenBank
GLA_00314
-
-
-
Qi Ming
./.
1
01
c.167G>T
-
p.Cys56Phe
-
-
GenBank
GLA_00354
-
-
-
Qi Ming
./.
1
01
c.168C>A
-
p.Cys56X
-
-
GenBank
GLA_00266
-
-
-
Qi Ming
./.
1
01
c.175G>A
-
p.Glu59Lys
-
-
GenBank
GLA_00248
-
-
-
Qi Ming
./.
1
01
c.181_182dup
-
p.Asp61GlufsX61
-
-
GenBank
GLA_00348
-
-
-
Qi Ming
./.
2
01
c.188G>A
-
p.Cys63Tyr
-
-
GenBank
GLA_00126
-
-
-
Qi Ming
./.
1
01
c.194G>C
-
p.Ser65Thr
-
-
GenBank
GLA_00343
-
-
-
Qi Ming
./.
1
01
c.194+1G>A
-
-
-
-
GenBank
GLA_00408
-
-
-
Qi Ming
./.
1
01
c.194+1491_194+1777del
-
-
-
-
GenBank
GLA_00507
-
-
-
Qi Ming
./.
1
02
c.195-1G>T
-
-
a g 1 to t substitution at the 3' end of the splice acceptor site in intron l
-
GenBank
GLA_00462
-
1 more item
-
Qi Ming
./.
1
02
c.195_369del
-
p.Ser65ArgfsX7
-
-
GenBank
GLA_00340
-
-
-
Qi Ming
./.
1
02
c.196G>A
-
p.Glu66Lys
-
-
GenBank
GLA_00127
-
-
-
Qi Ming
./.
4
02
c.196G>C
-
p.Glu66Gln
-
-
GenBank
GLA_00288
-
-
-
Qi Ming
./.
1
02
c.198G>A
-
p.Glu66Glu
-
-
GenBank
GLA_00352
-
-
-
Qi Ming
./.
1
02
c.202C>T
-
p.Leu68Phe
-
-
GenBank
GLA_00063
-
-
-
Qi Ming
./.
1
02
c.214A>G
-
p.Met72Val
A to G transversion in exon 02
-
GenBank
GLA_00440
-
1 more item
-
Qi Ming
./.
1
02
c.216G>A
-
p.Met72Ile
-
-
GenBank
GLA_00180
-
-
-
Qi Ming
./.
1
02
c.233C>A
-
p.Ser78X
-
-
GenBank
GLA_00457
-
because S78X can be (TCA78TAA)/(TCA78TGA), so there may be C>G
-
Qi Ming
./.
2
02
c.233C>G
-
p.Ser78X
C to G transversion in exon 02
-
GenBank
GLA_00393
-
-
-
Qi Ming
./.
2
02
c.235G>T
-
p.Glu79X
mutation E79X (GAA ~ TAA)
-
GenBank
GLA_00269
-
1 more item
-
Qi Ming
./.
3
02
c.242G>A
-
p.Trp81X
-
-
GenBank
GLA_00100
-
-
-
Qi Ming
./.
1
02
c.242G>C
-
p.Trp81Ser
-
-
GenBank
GLA_00315
-
-
-
Qi Ming
./.
1
02
c.243G>A
-
p.Trp81X
W81X
-
GenBank
GLA_00565
-
-
-
Qi Ming
./.
1
02
c.253_254delinsAA
-
p.Gly85Asn
G85N
-
GenBank
GLA_00566
-
-
-
Qi Ming
./.
1
02
c.256del
-
p.Tyr86MetfsX35
-
-
GenBank
GLA_00236
-
-
-
Qi Ming
./.
1
02
c.256delT
-
p.Tyr86MetfsX35
-
-
GenBank
GLA_00251
-
-
-
Qi Ming
./.
1
02
c.257A>G
-
p.Tyr86Cys
-
-
GenBank
GLA_00030
-
an A-to-G transition in codon 86, predicting a tyrosine-to-cysteine substitution (Y86C);
-
Qi Ming
./.
2
02
c.258T>G
-
p.Tyr86X
T to G transversion
-
GenBank
GLA_00291
-
Novel mutation
-
Qi Ming
./.
4
02
c.266T>C
-
p.Leu89Pro
L89P
-
GenBank
GLA_00031
-
a T-to-C transition in codon 89, predicting a leucine-to-proline replacement (L89P);
-
Qi Ming
./.
3
02
c.266T>G
-
p.Leu89Arg
T to C transversion in exon 2
-
GenBank
GLA_00250
-
-
-
Qi Ming
./.
1
02
c.270C>A
-
p.Cys90X
-
-
GenBank
GLA_00347
-
-
-
Qi Ming
./.
1
02
c.270delC
-
p.Cys90X
-
-
GenBank
GLA_00147
-
-
-
Qi Ming
./.
2
02
c.272T>C
-
p.Ile91Thr
-
-
GenBank
GLA_00025
-
a T-to-C transition in codon 91, resulting in an isoleucine-to-threonine substitution (I91T);
-
Qi Ming
./.
4
02
c.274G>A
-
p.Asp92Asn
G to A transmition in exon 2
-
GenBank
GLA_00195, GLA_00032
-
a G-to-A transition in codon 92, predicting an aspartic acid-to-tyrosine change (D92Y);
-
Qi Ming
./.
1
02
c.276dup
-
p.Asp93X
D93X
-
GenBank
GLA_00540
-
-
-
Qi Ming
./.
2
02
c.277G>A
-
p.Asp93Asn
-
-
GenBank
GLA_00267
-
-
-
Qi Ming
./.
3
02
c.281G>A
-
p.Cys94Tyr
-
-
GenBank
GLA_00033
NA
a G-to-A transition in codon 94, predicting an cysteine-to-tyrosine replacement (C94Y);
-
Qi Ming
./.
2
02
c.281G>C
-
p.Cys94Ser
G to C transversion in exon 2
-
GenBank
GLA_00216
-
-
-
Qi Ming
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