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Results for "LAMA1"
Variant Events: 68
Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
LAMA1
PN400534
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
2-1337-003
chr18:
7172947-7172947
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
LAMA1
08C75329
chr18:
7010164-7010164
T
TTTA
intronic
De novo
-
-
Satterstrom2020
E
Trost2022
G
LAMA1
12289_p1
chr18:
6958523-6958523
C
T
exonic
De novo
nonsynonymous SNV
NM_005559
c.G7917A
p.M2639I
1.786
-
Fu2022
E
LAMA1
PN400179
chr18:
7032153-7032153
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G2186A
p.R729H
28.3
0.0026
Leblond2019
E
LAMA1
1277001
chr18:
6980564-6980564
C
T
exonic
De novo
nonsynonymous SNV
NM_005559
c.G5963A
p.R1988K
7.465
-
Fu2022
E
LAMA1
Codina-Sola2015:ASD_35
chr18:
6999495-6999495
G
A
exonic
Maternal
nonsynonymous SNV
NM_005559
c.C4612T
p.R1538W
14.45
2.0E-4
Codina-Sola2015
E
LAMA1
AU3729301
chr18:
7226710-7226710
T
C
intergenic
De novo
-
-
Yuen2017
G
LAMA1
PN400548
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
PN400246
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
PN400264
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
PN400281
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
MSSNG00202-003
chr18:
6953053-6953053
C
T
intronic
De novo
-
-
Trost2022
G
LAMA1
12289.p1
chr18:
6958523-6958523
C
T
exonic
De novo
nonsynonymous SNV
NM_005559
c.G7917A
p.M2639I
1.786
-
Iossifov2014
E
Kosmicki2017
E
Krupp2017
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Wilfert2021
G
Zhou2022
G
E
LAMA1
PN400281
chr18:
6965301-6965301
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G7181A
p.R2394Q
35.0
9.884E-5
Leblond2019
E
LAMA1
P6Q4Z_01
chr18:
6953093-6953093
A
G
intronic
De novo
-
-
Trost2022
G
LAMA1
AU4024303
chr18:
6953053-6953053
C
T
intronic
De novo
-
-
Trost2022
G
LAMA1
1-0699-003
chr18:
6982338-6982338
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
LAMA1
MSSNG00089-003
chr18:
6953053-6953053
C
T
intronic
De novo
-
-
Trost2022
G
LAMA1
SP0045278
chr18:
6950770-6950770
T
G
intronic
De novo
-
-
Trost2022
G
LAMA1
REACH000145
chr18:
7019961-7019961
G
A
intronic
De novo
-
-
Trost2022
G
LAMA1
SSC02402
chr18:
7034440-7034440
C
A
intronic
De novo
-
-
Trost2022
G
LAMA1
AU4314302
chr18:
6982448-6982448
C
T
intronic
De novo
-
5.766E-5
Trost2022
G
Yuen2017
G
LAMA1
3-0380-002
chr18:
7014909-7014909
G
A
intronic
De novo
-
-
Trost2022
G
LAMA1
SP0025437
chr18:
7038938-7038938
C
T
exonic
De novo
synonymous SNV
NM_005559
c.G1434A
p.E478E
-
-
Feliciano2019
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
LAMA1
1-0654-003
chr18:
7017104-7017104
G
A
intronic
De novo
-
-
Trost2022
G
LAMA1
PN400323
chr18:
6965341-6965341
G
A
exonic
Unknown
nonsynonymous SNV
NM_005559
c.C7141T
p.R2381C
25.0
0.0024
Leblond2019
E
LAMA1
3-0368-000
chr18:
6977585-6977585
G
A
intronic
De novo
-
-
Trost2022
G
LAMA1
AU2764301
chr18:
7001562-7001562
T
C
intronic
De novo
-
-
Trost2022
G
LAMA1
1-0253-004
chr18:
7145382-7145382
C
T
intergenic
De novo
-
-
Yuen2017
G
LAMA1
P6Q4Z_01
chr18:
6953095-6953095
T
C
intronic
De novo
-
-
Trost2022
G
LAMA1
5-1003-003
chr18:
7085845-7085846
GC
AA
intronic
De novo
-
-
Trost2022
G
LAMA1
PN400524
chr18:
7032153-7032153
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G2186A
p.R729H
28.3
0.0026
Leblond2019
E
LAMA1
1-1049-003
chr18:
7094924-7094924
T
C
intronic
De novo
-
-
Trost2022
G
LAMA1
3-0278-000
chr18:
7058675-7058675
G
A
intronic
De novo
-
-
Trost2022
G
LAMA1
3-0475-000
chr18:
7080849-7080849
A
AAAAT
intronic
De novo
-
-
Trost2022
G
LAMA1
08C74292
chr18:
7042128-7042128
T
G
intronic
De novo
-
-
Satterstrom2020
E
Trost2022
G
LAMA1
3-0833-000
chr18:
7045946-7045946
A
G
intronic
De novo
-
-
Trost2022
G
LAMA1
SP0073860
chr18:
7049180-7049180
C
T
exonic
De novo
nonsynonymous SNV
NM_005559
c.G665A
p.R222Q
27.4
8.0E-4
Trost2022
G
LAMA1
10-0008-003
chr18:
7038346-7038347
TC
T
intronic
De novo
-
-
Trost2022
G
LAMA1
mAGRE1058
chr18:
7046276-7046276
C
A
splicing
Maternal
splicing
23.0
9.914E-5
Cirnigliaro2023
G
LAMA1
2-1535-003
chr18:
7040622-7040622
G
T
intronic
De novo
-
-
Trost2022
G
LAMA1
AU3905301
chr18:
7034494-7034494
T
A
exonic
Maternal
stopgain
NM_005559
c.A2035T
p.K679X
41.0
-
Cirnigliaro2023
G
LAMA1
PN400195
chr18:
7032153-7032153
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G2186A
p.R729H
28.3
0.0026
Leblond2019
E
LAMA1
SP0042713
chr18:
7012054-7012054
C
CGGGCTGCAGCCCAGGGGGT
exonic
De novo
frameshift insertion
NM_005559
c.3446_3447insACCCCCTGGGCTGCAGCCC
p.P1149fs
-
-
Fu2022
E
Zhou2022
G
E
LAMA1
PN400568
chr18:
7032153-7032153
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G2186A
p.R729H
28.3
0.0026
Leblond2019
E
LAMA1
DEASD_0407_001
chr18:
7032103-7032103
C
T
exonic
De novo
nonsynonymous SNV
NM_005559
c.G2236A
p.G746S
13.93
1.651E-5
DeRubeis2014
E
Fu2022
E
Kosmicki2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
LAMA1
SP0029233
chr18:
6986218-6986218
G
A
exonic
De novo
nonsynonymous SNV
NM_005559
c.C5297T
p.A1766V
12.92
2.471E-5
Fu2022
E
Trost2022
G
Zhou2022
G
E
LAMA1
PN400292
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
SP0086576
chr18:
7011474-7011474
G
A
exonic
De novo
nonsynonymous SNV
NM_005559
c.C3512T
p.T1171M
10.86
2.73E-5
Fu2022
E
Trost2022
G
Zhou2022
G
E
LAMA1
2-1361-003
chr18:
7040539-7040539
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
LAMA1
2-1366-004
chr18:
7146746-7146746
A
G
intergenic
De novo
-
-
Yuen2017
G
LAMA1
SP0045624
chr18:
6985444-6985444
A
T
intronic
De novo
-
-
Fu2022
E
LAMA1
2-1510-003
chr18:
7225292-7225312
GTATTATTATTATTATTATTA
GTATTATTATTATTATTA
intergenic
De novo
-
-
Yuen2017
G
LAMA1
SP0047040
chr18:
6964738-6964738
C
T
exonic
De novo
synonymous SNV
NM_005559
c.G7260A
p.P2420P
-
8.238E-6
Fu2022
E
Trost2022
G
Zhou2022
G
E
LAMA1
PN400544
chr18:
7032153-7032153
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G2186A
p.R729H
28.3
0.0026
Leblond2019
E
LAMA1
SP0066073
chr18:
7037532-7037532
T
G
intronic
De novo
-
-
Fu2022
E
LAMA1
MSSNG00117-003
chr18:
6961751-6961751
C
A
exonic
De novo
nonsynonymous SNV
NM_005559
c.G7460T
p.R2487L
14.33
-
Trost2022
G
Zhou2022
G
E
LAMA1
2-1709-003
chr18:
7177943-7177943
C
T
intergenic
De novo
-
-
Yuen2017
G
LAMA1
11225.p1
chr18:
6977778-6977778
T
A
exonic
Mosaic
nonsynonymous SNV
NM_005559
c.A6293T
p.N2098I
22.6
-
Dou2017
E
LAMA1
AU4327303
chr18:
7085618-7085618
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
LAMA1
PN400119
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
PN400100
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
PN400533
chr18:
7032153-7032153
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G2186A
p.R729H
28.3
0.0026
Leblond2019
E
LAMA1
PN400546
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
PN400396
chr18:
7049171-7049171
C
T
exonic
Unknown
nonsynonymous SNV
NM_005559
c.G674A
p.R225H
33.0
0.0064
Leblond2019
E
LAMA1
11552.p1
chr18:
7034440-7034440
C
A
intronic
De novo
-
-
Satterstrom2020
E
LAMA1
AU3635301
chr18:
7069483-7069483
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
Source Variant Information
?
, -
Source:
Paper alias:
No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes
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