Variant Results

or

or

Results for "CACNA2D2"

Variant Events: 13

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

CACNA2D2

Viggiano2022:101.3

chr3:
50403524-50403524

C

T

exonic

Maternal

nonsynonymous SNV

NM_001005505
NM_001291101
NM_006030
NM_001174051

c.G2780A
c.G2573A
c.G2780A
c.G2801A

p.R927H
p.R858H
p.R927H
p.R934H

18.45

Viggiano2022 GT

CACNA2D2

Lim2017:4916

chr3:
50425026-50425026

G

A

exonic

De novo

synonymous SNV

NM_001005505
NM_001174051
NM_001291101
NM_006030

c.C483T
c.C483T
c.C276T
c.C483T

p.Y161Y
p.Y161Y
p.Y92Y
p.Y161Y

-

-

Lim2017 E

CACNA2D2

SP0026334

chr3:
50415675-50415675

G

A

intronic

De novo

-

-

Fu2022 E

CACNA2D2

4916

chr3:
50425026-50425026

G

A

exonic

De novo

synonymous SNV

NM_001005505
NM_001174051
NM_001291101
NM_006030

c.C483T
c.C483T
c.C276T
c.C483T

p.Y161Y
p.Y161Y
p.Y92Y
p.Y161Y

-

-

Fu2022 E

CACNA2D2

SP0079889

chr3:
50513591-50513591

G

A

exonic

De novo

synonymous SNV

NM_001005505
NM_001174051
NM_001291101
NM_006030

c.C246T
c.C246T
c.C39T
c.C246T

p.D82D
p.D82D
p.D13D
p.D82D

-

Fu2022 E

CACNA2D2

13518.p1

chr3:
50417277-50417277

C

T

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

CACNA2D2

SP0105402

chr3:
50417277-50417277

C

T

intronic

De novo

-

Fu2022 E

CACNA2D2

2-1579-003

chr3:
50586368-50586368

C

T

intergenic

De novo

-

-

Yuen2017 G

CACNA2D2

13733.p1

chr3:
50425026-50425026

G

A

exonic

De novo

synonymous SNV

NM_001005505
NM_001174051
NM_001291101
NM_006030

c.C483T
c.C483T
c.C276T
c.C483T

p.Y161Y
p.Y161Y
p.Y92Y
p.Y161Y

-

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G

CACNA2D2

1-0511-003

chr3:
50512621-50512621

G

A

intronic

De novo

-

-

Yuen2017 G

CACNA2D2

11316.p1

chr3:
50403821-50403821

T

C

intronic

De novo

-

-

Satterstrom2020 E

CACNA2D2

AU3891304

chr3:
50451691-50451691

A

T

intronic

De novo

-

-

Yuen2017 G

CACNA2D2

5-0041-003

chr3:
50427980-50427980

C

T

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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