Variant Results

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Results for "PWP1"

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

PWP1

Chen2017:86

chr12:
108090356-108090356

C

T

exonic

De novo

nonsynonymous SNV

NM_007062

c.C608T

p.S203F

14.65

-

Chen2017 E

PWP1

mAGRE4034

chr12:
108105945-108105947

CTA

C

exonic

Paternal

frameshift deletion

NM_007062

c.1455_1456del

p.S485fs

-

-

Cirnigliaro2023 G

PWP1

AU3782302

chr12:
108105908-108105908

C

T

exonic

Maternal

stopgain

NM_007062

c.C1417T

p.R473X

37.0

Cirnigliaro2023 G

PWP1

AU1223301

chr12:
108098535-108098535

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PWP1

T2T9E-01

chr12:
108080786-108080786

G

A

intronic

De novo

-

-

Trost2022 G

PWP1

V5T5W_01

chr12:
108081846-108081846

G

A

intronic

De novo

-

-

Trost2022 G

PWP1

2-1292-004

chr12:
108079611-108079611

A

AC

UTR5

De novo

-

-

Trost2022 G

PWP1

2-1292-004

chr12:
108079614-108079615

GC

G

UTR5

De novo

-

-

Trost2022 G

PWP1

1-0549-003

chr12:
108092795-108092795

C

T

intronic

De novo

-

-

Trost2022 G

PWP1

1-0526-003

chr12:
108122836-108122836

C

G

intergenic

De novo

-

-

Yuen2017 G

PWP1

MSSNG00006-004

chr12:
108099368-108099368

T

G

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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