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Results for "CACNA1H"

Variant Events: 21

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
CACNA1H     1-0269-003chr16:
1250375-1250375
GAexonicDe novononsynonymous SNVNM_001005407
NM_021098
c.G923A
c.G923A
p.R308H
p.R308H
13.79-Yuen2017 G
CACNA1H     AU4164301chr16:
1254749-1254749
CTintronicDe novo--Yuen2017 G
CACNA1H     AU4433301chr16:
1259101-1259101
TGexonicDe novononsynonymous SNVNM_001005407
NM_021098
c.T3433G
c.T3433G
p.W1145G
p.W1145G
13.72-Yuen2017 G
CACNA1H     F2688-1chr16:
1257119-1257119
GAsplicingDe novosplicing12.27-Montenegro2019 E
CACNA1H     14421.p1chr16:
1258009-1258009
GAintronicDe novo-2.0E-4Krumm2015 E
Satterstrom2020 E
CACNA1H     SP0004175chr16:
1259413-1259413
GAsplicingDe novosplicing9.4098.984E-6Feliciano2019 E
CACNA1H     D’Gama2015:278chr16:
1268991-1268991
CGexonicUnknownnonsynonymous SNVNM_001005407
NM_021098
c.C5891G
c.C5909G
p.S1964C
p.S1970C
15.92-D’Gama2015 T
CACNA1H     UK45353chr16:
1259273-1259273
GAexonicUnknownnonsynonymous SNVNM_001005407
NM_021098
c.G3605A
c.G3605A
p.R1202Q
p.R1202Q
8.8921.0E-4D’Gama2015 T
CACNA1H     AU3695303chr16:
1262563-1262563
TCintronicDe novo--Yuen2017 G
CACNA1H     P025chr16:
1261575-1261575
GAexonicPaternalnonsynonymous SNVNM_001005407
NM_021098
c.G4445A
c.G4445A
p.R1482Q
p.R1482Q
33.01.0E-4Long2019 ET
CACNA1H     07C71009chr16:
1270908-1270908
CTexonicDe novononsynonymous SNVNM_001005407
NM_021098
c.C6958T
c.C6976T
p.L2320F
p.L2326F
11.28-Satterstrom2020 E
CACNA1H     P069chr16:
1255204-1255204
GAexonicUnknownnonsynonymous SNVNM_001005407
NM_021098
c.G2542A
c.G2542A
p.G848S
p.G848S
17.915.85E-5Long2019 ET
CACNA1H     2-1375-003chr16:
1211683-1211683
GAintronicDe novo--Yuen2017 G
CACNA1H     AU007503chr16:
1228534-1228534
CGintronicDe novo--Yuen2017 G
CACNA1H     14647.p1chr16:
1257375-1257375
AGexonicDe novononsynonymous SNVNM_001005407
NM_021098
c.A3008G
c.A3008G
p.N1003S
p.N1003S
21.61.72E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CACNA1H     JASD_Fam0039chr16:
1259233-1259233
CTexonicDe novononsynonymous SNVNM_001005407
NM_021098
c.C3565T
c.C3565T
p.R1189C
p.R1189C
6.26-Takata2018 E
CACNA1H     160708chr16:
1263950-1263950
CTintronicDe novo-2.549E-5Satterstrom2020 E
CACNA1H     14061.p1chr16:
1263915-1263915
AGexonicDe novononsynonymous SNVNM_001005407
NM_021098
c.A4895G
c.A4913G
p.H1632R
p.H1638R
21.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
CACNA1H     iHART2744chr16:
1269980-1269980
GAsplicingMaternalsplicing11.41-Ruzzo2019 G
CACNA1H     SSC10271chr16:
1263915-1263915
AGexonicDe novononsynonymous SNVNM_001005407
NM_021098
c.A4895G
c.A4913G
p.H1632R
p.H1638R
21.0-Lim2017 E
CACNA1H     AU1848302chr16:
1235593-1235598
GGTCAGGGintronicDe novo--Yuen2017 G
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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