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Results for "CACNA1B"

Variant Events: 20

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
CACNA1B     AU2427301chr9:
140862969-140862969
CTintronicDe novo--Yuen2017 G
CACNA1B     AU4462302chr9:
140921724-140921724
GAintronicDe novo--Yuen2017 G
CACNA1B     AU4423303chr9:
140804654-140804654
GAintronicDe novo--Yuen2017 G
CACNA1B     PN400488chr9:
140991033-140991033
GAexonicUnknownnonsynonymous SNVNM_000718
NM_001243812
c.G5192A
c.G5192A
p.R1731Q
p.R1731Q
35.0-Leblond2019 E
CACNA1B     NDAR_INVHU703KPJ_wes1chr9:
140881023-140881023
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
CACNA1B     1-0469-005chr9:
140943742-140943742
GAexonicDe novononsynonymous SNVNM_000718
NM_001243812
c.G3685A
c.G3685A
p.G1229S
p.G1229S
33.0-Yuen2015 G
Yuen2017 G
CACNA1B     2-0144-004chr9:
140823820-140823820
CGintronicDe novo--Yuen2017 G
CACNA1B     147-06-105672chr9:
140919378-140919378
CTintronicDe novo--Satterstrom2020 E
CACNA1B     14028.p1chr9:
140777199-140777199
GTexonicMosaicnonsynonymous SNVNM_000718
NM_001243812
c.G394T
c.G394T
p.D132Y
p.D132Y
11.64-Krupp2017 E
CACNA1B     14153.p1chr9:
140919038-140919038
AGintronicDe novo--Turner2016 G
CACNA1B     2-1397-003chr9:
140998151-140998151
GAintronicDe novo--Yuen2017 G
CACNA1B     7-0167-003chr9:
140897751-140897751
ACintronicDe novo--Yuen2017 G
CACNA1B     200701695@0159773112chr9:
140865791-140865791
TGintronicDe novo-4.0E-4Satterstrom2020 E
CACNA1B     Viggiano2022:60.3chr9:
141016261-141016261
CTexonicPaternalnonsynonymous SNVNM_000718
NM_001243812
c.C6830T
c.C6643T
p.T2277I
p.L2215F
18.821.0E-4Viggiano2022 GT
CACNA1B     Viggiano2022:87.3chr9:
141016140-141016140
GAexonicMaternalnonsynonymous SNVNM_000718c.G6709Ap.A2237T13.143.0E-4Viggiano2022 GT
CACNA1B     ASDFI_1513chr9:
140772650-140772650
AGexonicDe novononsynonymous SNVNM_000718
NM_001243812
c.A265G
c.A265G
p.K89E
p.K89E
24.50.0019DeRubeis2014 E
Kosmicki2017 E
CACNA1B     Viggiano2022:18.3chr9:
141016359-141016359
GAexonicPaternalnonsynonymous SNVNM_000718c.G6928Ap.V2310M20.65.878E-5Viggiano2022 GT
CACNA1B     AU3638302chr9:
140892804-140892804
TCintronicDe novo--Yuen2017 G
CACNA1B     Viggiano2022:31.3chr9:
141016111-141016111
GAexonicPaternalnonsynonymous SNVNM_000718
NM_001243812
c.G6680A
c.G6493A
p.R2227Q
p.G2165S
17.79-Viggiano2022 GT
CACNA1B     Viggiano2022:66.3chr9:
140918094-140918094
CTexonicMaternalnonsynonymous SNVNM_000718
NM_001243812
c.C2899T
c.C2899T
p.R967W
p.R967W
13.48-Viggiano2022 GT
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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