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Results for "CACNA2D1"

Variant Events: 54

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
CACNA2D1     13769.p1chr7:
81662204-81662204
CGexonicDe novononsynonymous SNVNM_000722c.G1052Cp.R351T26.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CACNA2D1     2-0144-004chr7:
81753573-81753573
GAintronicDe novo--Yuen2017 G
CACNA2D1     AU3702307chr7:
82251460-82251460
TCintergenicDe novo--Yuen2017 G
CACNA2D1     A16chr7:
82193119-82193119
CTintergenicDe novo--Wu2018 G
CACNA2D1     1-0274-003chr7:
81812807-81812807
AGintronicDe novo--Yuen2017 G
CACNA2D1     AU045514chr7:
82329893-82329893
GAintergenicDe novo--Yuen2017 G
CACNA2D1     7-0253-004chr7:
81725784-81725784
GAintronicDe novo--Yuen2017 G
CACNA2D1     AU038703chr7:
82182124-82182124
TCintergenicDe novo--Yuen2017 G
CACNA2D1     1-0990-003chr7:
82355021-82355021
AGintergenicDe novo--Yuen2017 G
CACNA2D1     10C116198chr7:
81799915-81799915
ACexonicDe novononsynonymous SNVNM_000722
NM_001302890
c.T305G
c.T305G
p.L102W
p.L102W
15.54-Lim2017 E
CACNA2D1     AU3517301chr7:
81689790-81689791
TCTexonicDe novoframeshift deletionNM_000722
NM_001302890
c.832delG
c.832delG
p.E278fs
p.E278fs
--Satterstrom2020 E
CACNA2D1     2-1525-003chr7:
81699940-81699940
AGintronicDe novo--Yuen2017 G
CACNA2D1     AU3918302chr7:
82023667-82023671
GAAAAGAAAintronicDe novo--Yuen2017 G
CACNA2D1     7-0104-003chr7:
81775247-81775247
CGintronicDe novo--Yuen2017 G
CACNA2D1     2-1509-003chr7:
81868059-81868059
TCintronicDe novo--Yuen2017 G
CACNA2D1     2-0110-003chr7:
82121617-82121617
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
CACNA2D1     2-1430-003chr7:
81859897-81859897
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CACNA2D1     AU3724301chr7:
81800598-81800598
CGintronicDe novo--Yuen2017 G
CACNA2D1     2-0003-003chr7:
81918992-81918992
TCintronicDe novo--Yuen2017 G
CACNA2D1     1-0052-003chr7:
82085961-82085961
CTintergenicDe novo--Yuen2017 G
CACNA2D1     AU3839303chr7:
82058696-82058696
GAintronicDe novo--Yuen2017 G
CACNA2D1     AU3368303chr7:
81706706-81706706
GAintronicDe novo--Yuen2017 G
CACNA2D1     1-0652-004chr7:
81718467-81718467
CTintronicDe novo--Yuen2017 G
CACNA2D1     AU4372309chr7:
81812129-81812129
GAintronicDe novo--Yuen2017 G
CACNA2D1     AU3918301chr7:
82177066-82177066
TCintergenicDe novo--Yuen2017 G
CACNA2D1     1-0043-003chr7:
82300886-82300886
ATintergenicDe novo--Yuen2017 G
CACNA2D1     1-0986-003chr7:
82058267-82058267
TGintronicDe novo--Yuen2017 G
CACNA2D1     AU0039303chr7:
81800638-81800638
TCintronicDe novo--Yuen2017 G
CACNA2D1     1-0206-004chr7:
81587419-81587419
GGAintronicDe novo--Yuen2017 G
CACNA2D1     2-1346-003chr7:
82187064-82187064
ATintergenicDe novo--Yuen2017 G
CACNA2D1     1675002chr7:
81612686-81612686
CAintronicDe novo-7.0E-4Satterstrom2020 E
CACNA2D1     2-1441-003chr7:
81674361-81674361
TAintronicDe novo--Yuen2016 G
CACNA2D1     1-0158-012chr7:
81581365-81581372
ATTGTGGTAintronicDe novo--Yuen2017 G
CACNA2D1     1-0225-003chr7:
82259776-82259781
TATACATAintergenicDe novo--Yuen2017 G
CACNA2D1     AU3779304chr7:
81876203-81876203
CTintronicDe novo--Yuen2017 G
CACNA2D1     2-1169-004chr7:
81622920-81622920
TCintronicDe novo--Yuen2017 G
CACNA2D1     Viggiano2022:54.3chr7:
81596917-81596917
CGexonicMaternalnonsynonymous SNVNM_000722c.G2458Cp.D820H12.24-Viggiano2022 GT
CACNA2D1     2-0022-004chr7:
82270310-82270310
AGintergenicDe novo--Yuen2017 G
CACNA2D1     1-0486-003chr7:
81919649-81919649
GCintronicDe novo--Yuen2017 G
CACNA2D1     AU3760301chr7:
81865967-81865967
GTintronicDe novo--Yuen2017 G
CACNA2D1     1-0486-003chr7:
81696750-81696750
GAintronicDe novo--Yuen2017 G
CACNA2D1     2-1297-004chr7:
81848093-81848093
TCintronicDe novo--Yuen2017 G
CACNA2D1     1-0274-004chr7:
81812807-81812807
AGintronicDe novo--Yuen2017 G
CACNA2D1     2-1720-003chr7:
81896358-81896358
CAintronicDe novo--Yuen2017 G
CACNA2D1     5-0018-003chr7:
81999172-81999172
AGintronicDe novo--Yuen2017 G
CACNA2D1     AU1223303chr7:
81790234-81790234
GTintronicDe novo--Yuen2017 G
CACNA2D1     5-0018-003chr7:
81999471-81999471
TCintronicDe novo--Yuen2017 G
CACNA2D1     AU2756306chr7:
81917909-81917909
TGintronicDe novo--Yuen2017 G
CACNA2D1     AU4314302chr7:
81587867-81587867
TCintronicDe novo--Yuen2017 G
CACNA2D1     DEASD_0219_001chr7:
81635200-81635200
CTintronicDe novo-1.668E-5Kosmicki2017 E
Satterstrom2020 E
CACNA2D1     3-0185-000chr7:
82131032-82131032
CGintergenicDe novo--Yuen2017 G
CACNA2D1     5-0040-003chr7:
81910801-81910801
TCintronicDe novo--Yuen2017 G
CACNA2D1     1-0296-004chr7:
81778679-81778679
GTintronicDe novo--Yuen2017 G
CACNA2D1     2-0289-003chr7:
81876039-81876039
GAintronicDe 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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