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Results for "CACNA1A"

Variant Events: 32

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     1-0336-004chr19:
13334913-13334920
TGAGACCATintronicDe novo--Yuen2017 G
CACNA1A     1-0246-004chr19:
13667423-13667423
CAintergenicDe novo--Yuen2017 G
CACNA1A     Viggiano2022:4.3chr19:
13325090-13325090
CTexonicMaternalnonsynonymous SNVNM_001127221
NM_001127222
c.G5900A
c.G5897A
p.R1967Q
p.R1966Q
21.84.0E-4Viggiano2022 GT
CACNA1A     2-1186-003chr19:
13445894-13445894
CGintronicDe novo--Yuen2016 G
Yuen2017 G
CACNA1A     Viggiano2022:94.3chr19:
13325055-13325055
CTexonicMaternalnonsynonymous SNVNM_001127221
NM_001127222
c.G5935A
c.G5932A
p.E1979K
p.E1978K
19.45-Viggiano2022 GT
CACNA1A     1-0006-004chr19:
13593021-13593021
CTintronicDe novo--Yuen2017 G
CACNA1A     11660.p1chr19:
13445217-13445217
CGexonicDe novosynonymous SNVNM_001127221
NM_001127222
c.G1173C
c.G1173C
p.G391G
p.G391G
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
CACNA1A     1-0054-003chr19:
13332040-13332040
CCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTintronicDe novo--Yuen2017 G
CACNA1A     AU4027306chr19:
13319578-13319578
GTexonicDe novononsynonymous SNVNM_001127221
NM_001127222
c.C6775A
c.C6772A
p.H2259N
p.H2258N
13.41-Yuen2017 G
CACNA1A     Viggiano2022:113.4chr19:
13319800-13319800
TCexonicUnknownnonsynonymous SNVNM_001127221
NM_001127222
c.A6553G
c.A6550G
p.T2185A
p.T2184A
11.0-Viggiano2022 GT
CACNA1A     AU3721301chr19:
13803141-13803141
GAintergenicDe novo--Yuen2017 G
CACNA1A     Yamamoto2019:2chr19:
13341007-13341007
AGexonicDe novononsynonymous SNVNM_001127221
NM_001127222
c.T5420C
c.T5417C
p.V1807A
p.V1806A
17.12-Yamamoto2019 T
CACNA1A     AU3716302chr19:
13471169-13471169
CAintronicDe novo--Yuen2017 G
CACNA1A     P021chr19:
13373569-13373572
GATGGexonicDe novononframeshift deletionNM_001127221
NM_001127222
c.4068_4070del
c.4065_4067del
p.1356_1357del
p.1355_1356del
--Long2019 ET
CACNA1A     2-1345-003chr19:
13688515-13688515
ACintergenicDe novo--Yuen2017 G
CACNA1A     5-0147-003chr19:
13592647-13592647
GCintronicDe novo--Yuen2017 G
CACNA1A     P014chr19:
13373594-13373594
CTexonicDe novononsynonymous SNVNM_001127221
NM_001127222
c.G4046A
c.G4043A
p.R1349Q
p.R1348Q
24.0-Long2019 ET
CACNA1A     1-0233-004chr19:
13332024-13332024
GCintronicDe novo--Yuen2017 G
CACNA1A     2-1291-003chr19:
13720972-13720972
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CACNA1A     ASC_CA_58_Achr19:
13345750-13345750
ATexonicDe novononsynonymous SNVNM_001127221
NM_001127222
c.T5237A
c.T5234A
p.L1746H
p.L1745H
17.96-Satterstrom2020 E
CACNA1A     7-0222-003chr19:
13806815-13806815
CAintergenicDe novo--Yuen2017 G
CACNA1A     1-0606-003chr19:
13334388-13334388
CTintronicDe novo--Yuen2017 G
CACNA1A     7-0080-003chr19:
13624400-13624400
ACintergenicDe novo--Yuen2017 G
CACNA1A     3-0434-000chr19:
13718792-13718792
ACintergenicDe novo--Yuen2017 G
CACNA1A     A22chr19:
13811741-13811741
AGintergenicDe novo--Wu2018 G
CACNA1A     AU1860301chr19:
13446816-13446816
GCintronicDe novo--Yuen2017 G
CACNA1A     AU2787302chr19:
13629699-13629699
CTintergenicDe novo--Yuen2017 G
CACNA1A     1-0180-004chr19:
13404051-13404051
GGCCAGCintronicDe novo--Yuen2017 G
CACNA1A     AU3839303chr19:
13652178-13652178
GAintergenicDe novo--Yuen2017 G
CACNA1A     AU4284301chr19:
13423239-13423239
TCintronicDe novo--Yuen2017 G
CACNA1A     1-0304-003chr19:
13613426-13613426
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CACNA1A     2-1427-003chr19:
13822437-13822437
GAintergenicDe 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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