Variant Results

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Results for "CACNB1"

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

CACNB1

Viggiano2022:22.4

chr17:
37331453-37331453

A

T

exonic

Paternal

nonsynonymous SNV

NM_000723

c.T1790A

p.I597N

14.36

-

Viggiano2022 GT

CACNB1

REACH000239

chr17:
37339603-37339603

A

G

intronic

De novo

-

-

Trost2022 G

CACNB1

AU2787301

chr17:
37351450-37351454

GCCCC

GCCCCC

intronic

De novo

-

-

Yuen2017 G

CACNB1

4-0040-003

chr17:
37341649-37341649

T

C

intronic

De novo

-

-

Trost2022 G

CACNB1

Viggiano2022:28.3

chr17:
37343823-37343823

T

C

exonic

Paternal

nonsynonymous SNV

NM_000723
NM_199247
NM_199248

c.A323G
c.A323G
c.A323G

p.N108S
p.N108S
p.N108S

17.1

Viggiano2022 GT

CACNB1

Viggiano2022:22.3

chr17:
37331453-37331453

A

T

exonic

Paternal

nonsynonymous SNV

NM_000723

c.T1790A

p.I597N

14.36

-

Viggiano2022 GT

CACNB1

2-1329-003

chr17:
37351555-37351555

T

TTG

intronic

De novo

-

-

Yuen2016 G

CACNB1

2-0197-004

chr17:
37352145-37352147

CTC

TGG

intronic

De novo

-

-

Trost2022 G

CACNB1

AU4426303

chr17:
37353987-37353987

C

A

upstream

De novo

-

-

Trost2022 G
Yuen2017 G

CACNB1

SP0147029

chr17:
37343712-37343712

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

CACNB1

1-0534-003

chr17:
37337898-37337900

ATT

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CACNB1

1-0534-004

chr17:
37337898-37337900

ATT

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CACNB1

398_15au

chr17:
37343209-37343209

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 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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