Variant Results

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or

Results for "PPP1R16B"

Variant Events: 16

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

PPP1R16B

MSSNG00331-003

chr20:
37447265-37447265

G

C

intronic

De novo

-

-

Trost2022 G

PPP1R16B

2-1134-003

chr20:
37540950-37540950

G

A

intronic

De novo

-

-

Yuen2017 G

PPP1R16B

SJD_8.3

chr20:
37521885-37521887

CTG

C

intronic

De novo

-

-

Trost2022 G

PPP1R16B

3-0339-000

chr20:
37518512-37518512

C

T

intronic

De novo

-

-

Trost2022 G

PPP1R16B

MT_16.3

chr20:
37504022-37504022

C

G

intronic

De novo

-

-

Trost2022 G

PPP1R16B

1-0088-003

chr20:
37499325-37499325

G

A

intronic

De novo

-

-

Trost2022 G

PPP1R16B

7-0048-003

chr20:
37492051-37492051

C

A

intronic

De novo

-

-

Trost2022 G

PPP1R16B

3-0016-000

chr20:
37485008-37485008

T

C

intronic

De novo

-

-

Trost2022 G

PPP1R16B

AU4056302

chr20:
37443333-37443333

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPP1R16B

7-0227-003

chr20:
37484887-37484887

C

CT

intronic

De novo

-

-

Trost2022 G

PPP1R16B

MSSNG00374-003

chr20:
37454708-37454708

G

C

intronic

De novo

-

-

Trost2022 G

PPP1R16B

REACH000569

chr20:
37546616-37546616

G

T

intronic

De novo

-

-

Trost2022 G

PPP1R16B

A1

chr20:
37444851-37444851

G

A

intronic

De novo

-

-

Wu2018 G

PPP1R16B

4-0064-004

chr20:
37545542-37545542

G

A

intronic

De novo

-

-

Trost2022 G

PPP1R16B

AU3053302

chr20:
37483361-37483361

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPP1R16B

Kim2020:B7

chr20:
37531322-37531322

G

A

exonic

De novo

nonsynonymous SNV

NM_001172735
NM_015568

c.G583A
c.G583A

p.E195K
p.E195K

24.9

-

Kim2020 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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