Variant Results

or

or

Results for "CACNG2"

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

CACNG2

1-0567-003

chr22:
36969675-36969675

G

A

intronic

De novo

-

-

Yuen2017 G

CACNG2

2-1246-003

chr22:
36977836-36977836

C

T

intronic

De novo

-

-

Yuen2017 G

CACNG2

SMHC01575s000

chr22:
36960660-36960660

C

G

exonic

De novo

nonsynonymous SNV

NM_006078

c.G710C

p.S237T

17.91

-

Yuan2023 E

CACNG2

AU3794302

chr22:
37010852-37010852

A

G

intronic

De novo

-

-

Yuen2017 G

CACNG2

1-0300-004

chr22:
36990812-36990812

G

A

intronic

De novo

-

-

Yuen2017 G

CACNG2

2-0018-004

chr22:
37076394-37076394

T

C

intronic

De novo

-

-

Yuen2017 G

CACNG2

AU2433302

chr22:
36976302-36976302

A

G

intronic

De novo

-

-

Yuen2017 G

CACNG2

Lee2020:96

chr22:
36960935-36960935

T

C

splicing

splicing

17.47

-

Lee2020 T

CACNG2

SP0027311

chr22:
36960345-36960345

G

C

UTR3

De novo

-

-

Fu2022 E

CACNG2

1-0104-004

chr22:
37043618-37043618

G

A

intronic

De novo

-

-

Yuen2017 G

CACNG2

2-1729-003

chr22:
36961750-36961750

T

C

intronic

De novo

-

-

Yuen2017 G

CACNG2

1-0493-003

chr22:
37079882-37079896

ATCTCTCTCTCTCTC

ATCTCTCTCTCTC

intronic

De novo

-

-

Yuen2017 G

CACNG2

10C102646

chr22:
36960663-36960663

C

G

exonic

De novo

nonsynonymous SNV

NM_006078

c.G707C

p.R236P

18.08

-

Lim2017 E

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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