Variant Results

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Results for "CACNB4"

Variant Events: 11

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

CACNB4

AU4013301

chr2:
152689540-152689540

A

G

UTR3

De novo

-

-

Yuen2017 G

CACNB4

11453.p1

chr2:
152717371-152717371

A

G

intronic

De novo

-

-

Satterstrom2020 E

CACNB4

2-1245-003

chr2:
152952967-152952967

C

T

intronic

De novo

-

-

Yuen2017 G

CACNB4

2-0208-003

chr2:
152921786-152921791

TACTCG

T

intronic

De novo

-

-

Yuen2017 G

CACNB4

2-1337-003

chr2:
152953164-152953164

T

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CACNB4

2-0208-004

chr2:
152921786-152921791

TACTCG

T

intronic

De novo

-

-

Yuen2017 G

CACNB4

1-0043-004

chr2:
152968789-152968789

A

AT

intergenic

De novo

-

-

Yuen2017 G

CACNB4

AU3729301

chr2:
152733425-152733432

GTATATAT

GT

intronic

De novo

-

-

Yuen2017 G

CACNB4

Viggiano2022:98.3

chr2:
152717254-152717254

A

G

exonic

Paternal

nonsynonymous SNV

NM_001005747
NM_000726
NM_001005746
NM_001145798

c.T737C
c.T839C
c.T785C
c.T839C

p.I246T
p.I280T
p.I262T
p.I280T

24.0

Viggiano2022 GT

CACNB4

2-1452-003

chr2:
152797390-152797390

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

CACNB4

AU011903

chr2:
152771435-152771435

T

C

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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