Variant Results

or

Results for "PPP1R9B"

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

PPP1R9B

Mahjani2021:83

chr17:
48216916-48216916

C

T

exonic

unknown

-

Mahjani2021 E

PPP1R9B

AU4223302

chr17:
48211216-48211217

CA

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

PPP1R9B

09C99931

chr17:
48213378-48213378

C

T

exonic

De novo

unknown

-

2.245E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PPP1R9B

200675376_1082034681

chr17:
48217520-48217520

C

T

exonic

De novo

unknown

-

Fu2022 E

PPP1R9B

3-0307-000

chr17:
48229794-48229794

G

A

intergenic

De novo

-

Yuen2017 G

PPP1R9B

200675376@1082034681

chr17:
48217520-48217520

C

T

exonic

De novo

unknown

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PPP1R9B

EGAN00001100975

chr17:
48213525-48213525

A

C

exonic

De novo

unknown

-

2.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PPP1R9B

SP0086115

chr17:
48227046-48227046

G

A

exonic

unknown

-

Zhou2022 GE

PPP1R9B

SP0037584

chr17:
48226889-48226889

C

T

exonic

unknown

-

Zhou2022 GE

PPP1R9B

1-0024-003

chr17:
48213378-48213378

C

T

exonic

De novo

unknown

-

2.245E-5

Yuen2016 G
Yuen2017 G
Zhou2022 GE

PPP1R9B

MSSNG00409-003

chr17:
48217123-48217123

C

T

intronic

De novo

-

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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