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Results for "CACNA1D"

Variant Events: 33

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
CACNA1D     AU4237304chr3:
53585491-53585491
CTintronicDe novo--Yuen2017 G
CACNA1D     AU046707chr3:
53719030-53719030
TGintronicDe novo--Yuen2017 G
CACNA1D     A18chr3:
53808675-53808675
CTexonicDe novononsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.C4127T
c.C4172T
c.C4232T
p.T1376M
p.T1391M
p.T1411M
31.0-Jiao2019 E
CACNA1D     12733.p1chr3:
53572860-53572861
ACAintronicDe novo--Werling2018 G
CACNA1D     2-1399-003chr3:
53845029-53845029
CGintronicDe novo--Yuen2017 G
CACNA1D     2-1507-003chr3:
53847587-53847587
CTintergenicDe novo--Yuen2017 G
CACNA1D     12439.p1chr3:
53787575-53787575
CTintronicDe novo-2.0E-4Satterstrom2020 E
CACNA1D     P051chr3:
53810651-53810651
GCexonicDe novononsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.G4339C
c.G4384C
c.G4444C
p.V1447L
p.V1462L
p.V1482L
33.0-Long2019 ET
CACNA1D     2-1268-003chr3:
53717444-53717444
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CACNA1D     Li2017:17702chr3:
53700366-53700366
ACexonicUnknownnonsynonymous SNVNM_000720
NM_001128839
NM_001128840
c.A920C
c.A920C
c.A920C
p.D307A
p.D307A
p.D307A
16.71-Li2017 T
CACNA1D     2-0300-004chr3:
53553400-53553400
CTintronicDe novo--Yuen2017 G
CACNA1D     AU1995302chr3:
53809090-53809090
CTintronicDe novo--Yuen2017 G
CACNA1D     Li2017:17705chr3:
53842712-53842712
GAexonicUnknownnonsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.G5714A
c.G5786A
c.G5846A
p.R1905H
p.R1929H
p.R1949H
36.08.274E-6Li2017 T
CACNA1D     AU002406chr3:
53752777-53752777
CTintronicDe novo--Yuen2017 G
CACNA1D     Lim2017:5910chr3:
53752764-53752764
TGexonicDe novononsynonymous SNVNM_000720c.T1534Gp.W512G9.6859.244E-5Lim2017 E
CACNA1D     13324.p1chr3:
53778345-53778345
AGintronicDe novo--Turner2016 G
CACNA1D     1-0296-004chr3:
53813960-53813960
ATintronicDe novo--Yuen2017 G
CACNA1D     SSC07798chr3:
53707152-53707152
GAexonicDe novononsynonymous SNVNM_001128839
NM_001128840
c.G1219A
c.G1219A
p.G407R
p.G407R
20.8-Lim2017 E
CACNA1D     Lim2017:5929chr3:
53764493-53764493
CGexonicDe novononsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.C2246G
c.C2246G
c.C2306G
p.A749G
p.A749G
p.A769G
31.0-Lim2017 E
CACNA1D     Li2017:23096chr3:
53779862-53779862
CTexonicUnknownnonsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.C3127T
c.C3127T
c.C3187T
p.R1043C
p.R1043C
p.R1063C
20.41.649E-5Li2017 T
CACNA1D     09C83080chr3:
53757544-53757544
GAexonicDe novononsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.G1750A
c.G1750A
c.G1810A
p.V584I
p.V584I
p.V604I
36.01.647E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CACNA1D     Li2017:19649chr3:
53760951-53760951
AGexonicUnknownnonsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.A2146G
c.A2146G
c.A2206G
p.M716V
p.M716V
p.M736V
24.34.942E-5Li2017 T
CACNA1D     673-05-104727chr3:
53529164-53529164
ACUTR5De novo--Satterstrom2020 E
CACNA1D     Uddin2014:21chr3:
53764493-53764493
CGexonicDe novononsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.C2246G
c.C2246G
c.C2306G
p.A749G
p.A749G
p.A769G
31.0-Uddin2014 E
CACNA1D     7-0171-003chr3:
53610071-53610071
GAintronicDe novo--Yuen2017 G
CACNA1D     12620.p1chr3:
53707152-53707152
GAexonicDe novononsynonymous SNVNM_001128839
NM_001128840
c.G1219A
c.G1219A
p.G407R
p.G407R
20.8-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
CACNA1D     Li2017:20606chr3:
53699710-53699710
AGexonicUnknownnonsynonymous SNVNM_000720
NM_001128839
NM_001128840
c.A790G
c.A790G
c.A790G
p.I264V
p.I264V
p.I264V
21.01.648E-5Li2017 T
CACNA1D     1-0534-004chr3:
53593876-53593876
TCintronicDe novo--Yuen2017 G
CACNA1D     2-1305-003chr3:
53696735-53696735
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CACNA1D     Li2017:23185chr3:
53796100-53796100
GAexonicUnknownnonsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.G3862A
c.G3862A
c.G3922A
p.E1288K
p.E1288K
p.E1308K
19.82.472E-5Li2017 T
CACNA1D     1-0757-003chr3:
53748509-53748509
GAintronicDe novo--Yuen2017 G
CACNA1D     11872.p1chr3:
53764493-53764493
CGexonicDe novononsynonymous SNVNM_001128839
NM_001128840
NM_000720
c.C2246G
c.C2246G
c.C2306G
p.A749G
p.A749G
p.A769G
31.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
CACNA1D     AU1939302chr3:
53844106-53844106
GAexonicDe novosynonymous SNVNM_001128839
NM_001128840
NM_000720
c.G5901A
c.G5973A
c.G6033A
p.R1967R
p.R1991R
p.R2011R
--Satterstrom2020 E
Source Variant Information

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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 notesView
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