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Results for "CACNA1A"
Variant Events: 59
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
CACNA1A
SP0129517
chr19:
13563870-13563870
C
G
intronic
De novo
-
-
Fu2022
E
CACNA1A
SP0076269
chr19:
13616812-13616812
C
T
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.G227A
c.G227A
p.R76Q
p.R76Q
14.82
-
Fu2022
E
CACNA1A
SP0072755
chr19:
13370312-13370312
C
A
intronic
De novo
-
-
Fu2022
E
CACNA1A
SP0021714
chr19:
13397348-13397348
G
C
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.C3525G
c.C3522G
p.C1175W
p.C1174W
11.52
-
Fu2022
E
CACNA1A
Viggiano2022:4.3
chr19:
13325090-13325090
C
T
exonic
Maternal
nonsynonymous SNV
NM_001127221
NM_001127222
c.G5900A
c.G5897A
p.R1967Q
p.R1966Q
21.8
4.0E-4
Viggiano2022
G
T
CACNA1A
Viggiano2022:94.3
chr19:
13325055-13325055
C
T
exonic
Maternal
nonsynonymous SNV
NM_001127221
NM_001127222
c.G5935A
c.G5932A
p.E1979K
p.E1978K
19.45
-
Viggiano2022
G
T
CACNA1A
11660.p1
chr19:
13445217-13445217
C
G
exonic
De novo
synonymous SNV
NM_001127221
NM_001127222
c.G1173C
c.G1173C
p.G391G
p.G391G
-
-
Iossifov2014
E
Kosmicki2017
E
Krupp2017
E
O’Roak2012b
E
Satterstrom2020
E
Wilfert2021
G
Zhou2022
G
E
CACNA1A
1-0054-003
chr19:
13332040-13332040
C
CTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTT
intronic
De novo
-
-
Yuen2017
G
CACNA1A
Viggiano2022:113.4
chr19:
13319800-13319800
T
C
exonic
Unknown
nonsynonymous SNV
NM_001127221
NM_001127222
c.A6553G
c.A6550G
p.T2185A
p.T2184A
11.0
-
Viggiano2022
G
T
CACNA1A
AU3716302
chr19:
13471169-13471169
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA1A
P021
chr19:
13373569-13373572
GATG
G
exonic
De novo
nonframeshift deletion
NM_001127221
NM_001127222
c.4068_4070del
c.4065_4067del
p.1356_1357del
p.1355_1356del
-
-
Long2019
E
T
CACNA1A
P014
chr19:
13373594-13373594
C
T
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.G4046A
c.G4043A
p.R1349Q
p.R1348Q
24.0
-
Long2019
E
T
CACNA1A
5028
chr19:
13445217-13445217
C
G
exonic
De novo
synonymous SNV
NM_001127221
NM_001127222
c.G1173C
c.G1173C
p.G391G
p.G391G
-
-
Fu2022
E
Trost2022
G
CACNA1A
SSC08475
chr19:
13419064-13419064
A
C
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.T1786G
c.T1783G
p.Y596D
p.Y595D
17.29
8.708E-6
Fu2022
E
CACNA1A
1-0606-003
chr19:
13334388-13334388
C
T
intronic
De novo
-
-
Yuen2017
G
CACNA1A
7-0080-003
chr19:
13624400-13624400
A
C
intergenic
De novo
-
-
Yuen2017
G
CACNA1A
A22
chr19:
13811741-13811741
A
G
intergenic
De novo
-
-
Wu2018
G
CACNA1A
AU1860301
chr19:
13446816-13446816
G
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA1A
1-0304-003
chr19:
13613426-13613426
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
CACNA1A
1-0336-004
chr19:
13334913-13334920
TGAGACCA
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA1A
1-0246-004
chr19:
13667423-13667423
C
A
intergenic
De novo
-
-
Yuen2017
G
CACNA1A
1-0553-003
chr19:
13316864-13316864
C
T
downstream
De novo
-
-
Trost2022
G
CACNA1A
2-1186-003
chr19:
13445894-13445894
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
CACNA1A
MSSNG00004-004
chr19:
13320591-13320591
T
TC
intronic
De novo
-
-
Trost2022
G
CACNA1A
1-0006-004
chr19:
13593021-13593021
C
T
intronic
De novo
-
-
Yuen2017
G
CACNA1A
AU4027306
chr19:
13319578-13319578
G
T
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.C6775A
c.C6772A
p.H2259N
p.H2258N
13.41
-
Trost2022
G
Yuen2017
G
Zhou2022
G
E
CACNA1A
AU3721301
chr19:
13803141-13803141
G
A
intergenic
De novo
-
-
Yuen2017
G
CACNA1A
Yamamoto2019:2
chr19:
13341007-13341007
A
G
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.T5420C
c.T5417C
p.V1807A
p.V1806A
17.12
-
Yamamoto2019
T
CACNA1A
MSSNG00011-003
chr19:
13468785-13468785
C
T
intronic
De novo
-
-
Trost2022
G
CACNA1A
7-0459-003
chr19:
13471535-13471535
G
A
intronic
De novo
-
-
Trost2022
G
CACNA1A
SP0156077
chr19:
13409445-13409445
C
A
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.G3005T
c.G3002T
p.R1002L
p.R1001L
10.48
-
Trost2022
G
CACNA1A
2-1345-003
chr19:
13688515-13688515
A
C
intergenic
De novo
-
-
Yuen2017
G
CACNA1A
5-5001-003
chr19:
13458964-13458964
C
T
intronic
De novo
-
-
Trost2022
G
CACNA1A
7-0257-003
chr19:
13362166-13362166
A
G
intronic
De novo
-
-
Trost2022
G
CACNA1A
SP0031795
chr19:
13414398-13414398
C
T
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.G2137A
c.G2134A
p.A713T
p.A712T
22.1
-
Antaki2022
G
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
CACNA1A
7-0257-003
chr19:
13362170-13362170
A
G
intronic
De novo
-
-
Trost2022
G
CACNA1A
5-0147-003
chr19:
13592647-13592647
G
C
intronic
De novo
-
-
Yuen2017
G
CACNA1A
2-0295-004
chr19:
13325380-13325380
T
G
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.A5777C
c.A5774C
p.E1926A
p.E1925A
15.94
-
Trost2022
G
CACNA1A
AU003406
chr19:
13361775-13361775
G
A
intronic
De novo
-
-
Trost2022
G
CACNA1A
1-0233-004
chr19:
13332024-13332024
G
C
intronic
De novo
-
-
Yuen2017
G
CACNA1A
2-1291-003
chr19:
13720972-13720972
C
T
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
CACNA1A
ASC_CA_58_A
chr19:
13345750-13345750
A
T
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.T5237A
c.T5234A
p.L1746H
p.L1745H
17.96
-
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
CACNA1A
5-0097-003
chr19:
13594303-13594303
T
C
intronic
De novo
-
-
Trost2022
G
CACNA1A
1-1066-003
chr19:
13599494-13599494
G
T
intronic
De novo
-
-
Trost2022
G
CACNA1A
7-0222-003
chr19:
13806815-13806815
C
A
intergenic
De novo
-
-
Yuen2017
G
CACNA1A
2-1347-003
chr19:
13523217-13523217
T
C
intronic
De novo
-
-
Trost2022
G
CACNA1A
MSSNG00255-005
chr19:
13528097-13528097
G
A
intronic
De novo
-
-
Trost2022
G
CACNA1A
MSSNG00436-003
chr19:
13474826-13474826
G
C
intronic
De novo
-
-
Trost2022
G
CACNA1A
MT_18.3
chr19:
13485956-13485956
G
A
intronic
De novo
-
-
Trost2022
G
CACNA1A
3-0434-000
chr19:
13718792-13718792
A
C
intergenic
De novo
-
-
Yuen2017
G
CACNA1A
SP0036040
chr19:
13346033-13346033
A
G
exonic
nonsynonymous SNV
NM_001127221
NM_001127222
c.T5126C
c.T5123C
p.I1709T
p.I1708T
18.68
-
Zhou2022
G
E
CACNA1A
G01_GEA508HI
chr19:
13341002-13341002
C
T
exonic
De novo
nonsynonymous SNV
NM_001127221
NM_001127222
c.G5425A
c.G5422A
p.V1809I
p.V1808I
19.93
-
Fu2022
E
CACNA1A
SJD_74.3
chr19:
13318767-13318767
C
G
exonic
De novo
nonsynonymous SNV
NM_001127222
c.G6881C
p.R2294P
11.89
-
Trost2022
G
Zhou2022
G
E
CACNA1A
12211.p1
chr19:
13318346-13318346
G
C
exonic
stopgain
NM_001127222
c.C7302G
p.Y2434X
45.0
-
Zhou2022
G
E
CACNA1A
AU2787302
chr19:
13629699-13629699
C
T
intergenic
De novo
-
-
Yuen2017
G
CACNA1A
1-0180-004
chr19:
13404051-13404051
G
GCCAGC
intronic
De novo
-
-
Yuen2017
G
CACNA1A
AU3839303
chr19:
13652178-13652178
G
A
intergenic
De novo
-
-
Yuen2017
G
CACNA1A
AU4284301
chr19:
13423239-13423239
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
CACNA1A
2-1427-003
chr19:
13822437-13822437
G
A
intergenic
De novo
-
-
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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