Variant Results

or

or

Results for "BCAS1"

Variant Events: 12

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

BCAS1

AU3122301

chr20:
52663703-52663703

G

T

intronic

De novo

-

-

Yuen2017 G

BCAS1

AU3692301

chr20:
52601445-52601445

A

C

intronic

De novo

-

-

Yuen2017 G

BCAS1

1-0368-004

chr20:
52606112-52606112

A

G

intronic

De novo

-

-

Yuen2017 G

BCAS1

iHART2613

chr20:
52645122-52645123

CT

C

exonic

Paternal

frameshift deletion

NM_001316361
NM_003657

c.531delA
c.531delA

p.T177fs
p.T177fs

-

Ruzzo2019 G

BCAS1

Viggiano2022:22.3

chr20:
52570206-52570206

G

A

exonic

Maternal

nonsynonymous SNV

NM_001316361
NM_003657

c.C1211T
c.C1445T

p.T404I
p.T482I

14.16

-

Viggiano2022 GT

BCAS1

Viggiano2022:22.4

chr20:
52570206-52570206

G

A

exonic

Maternal

nonsynonymous SNV

NM_001316361
NM_003657

c.C1211T
c.C1445T

p.T404I
p.T482I

14.16

-

Viggiano2022 GT

BCAS1

AU4412302

chr20:
52702578-52702578

T

G

intergenic

De novo

-

-

Yuen2017 G

BCAS1

1-0669-003

chr20:
52618727-52618727

G

A

intronic

De novo

-

-

Yuen2017 G

BCAS1

1-0226-005

chr20:
52573876-52573876

T

C

intronic

De novo

-

-

Yuen2017 G

BCAS1

2-0238-003

chr20:
52639049-52639049

C

A

intronic

De novo

-

-

Yuen2017 G

BCAS1

1-0496-003

chr20:
52700427-52700427

A

G

intergenic

De novo

-

-

Yuen2016 G

BCAS1

2-1730-003

chr20:
52712698-52712698

T

C

intergenic

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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