Variant Results

or

or

Results for "WWC1"

Variant Events: 24

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

WWC1

A25

chr5:
167850167-167850167

A

AAAAAAAAC

intronic

De novo

-

-

Wu2018 G

WWC1

13171.p1

chr5:
167730794-167730794

C

T

intronic

De novo

-

-

Turner2016 G

WWC1

74-0355

chr5:
167797802-167797802

C

T

intronic

De novo

-

-

Michaelson2012 G

WWC1

2-1620-004

chr5:
167794246-167794246

T

G

intronic

De novo

-

-

Yuen2017 G

WWC1

AU072904

chr5:
167778263-167778265

CAG

C

intronic

De novo

-

-

Yuen2017 G

WWC1

Chen2017:90

chr5:
167887718-167887718

C

A

exonic

De novo

nonsynonymous SNV

NM_001161661
NM_001161662
NM_015238

c.C2887A
c.C2887A
c.C2887A

p.L963M
p.L963M
p.L963M

10.4

-

Chen2017 E

WWC1

1-0458-005

chr5:
167790201-167790201

A

G

intronic

De novo

-

-

Yuen2017 G

WWC1

1-0289-003

chr5:
167910695-167910695

T

G

intergenic

De novo

-

-

Yuen2017 G

WWC1

7-0129-003

chr5:
167858742-167858742

A

C

intronic

De novo

-

-

Yuen2017 G

WWC1

152-HSC0079

chr5:
167841447-167841447

G

A

exonic

Inherited

nonsynonymous SNV

NM_001161661
NM_001161662
NM_015238

c.G1036A
c.G1036A
c.G1036A

p.E346K
p.E346K
p.E346K

36.0

-

Patowary2019 E

WWC1

AU069603

chr5:
167781949-167781949

C

T

intronic

De novo

-

-

Yuen2017 G

WWC1

2-1140-003

chr5:
167740672-167740672

C

T

intronic

De novo

-

-

Yuen2017 G

WWC1

3-0111-000

chr5:
167855373-167855373

G

A

intronic

De novo

-

-

Yuen2016 G

WWC1

1-0756-003

chr5:
167837999-167837999

G

A

intronic

De novo

-

-

Yuen2017 G

WWC1

A27

chr5:
167842944-167842944

C

T

intronic

De novo

-

-

Wu2018 G

WWC1

AU4069302

chr5:
167877502-167877502

C

T

intronic

De novo

-

-

Yuen2017 G

WWC1

EGAN00001101018

chr5:
167719310-167719310

A

C

intronic

De novo

-

-

Satterstrom2020 E

WWC1

200675594@1082034690

chr5:
167887718-167887718

C

A

exonic

De novo

nonsynonymous SNV

NM_001161661
NM_001161662
NM_015238

c.C2887A
c.C2887A
c.C2887A

p.L963M
p.L963M
p.L963M

10.4

-

Satterstrom2020 E

WWC1

392_2013

chr5:
167895979-167895979

G

A

exonic

De novo

nonsynonymous SNV

NM_001161661
NM_001161662
NM_015238

c.G3317A
c.G3314A
c.G3299A

p.R1106Q
p.R1105Q
p.R1100Q

28.1

Fu2022 E

WWC1

AU036203

chr5:
167855727-167855727

A

G

exonic

De novo

synonymous SNV

NM_001161661
NM_001161662
NM_015238

c.A1935G
c.A1935G
c.A1935G

p.E645E
p.E645E
p.E645E

12.04

-

Yuen2017 G

WWC1

08C75239

chr5:
167848966-167848966

C

T

intronic

De novo

-

-

Satterstrom2020 E

WWC1

2-1194-003

chr5:
167888387-167888387

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

WWC1

200675594_1082034690

chr5:
167887718-167887718

C

A

exonic

De novo

nonsynonymous SNV

NM_001161661
NM_001161662
NM_015238

c.C2887A
c.C2887A
c.C2887A

p.L963M
p.L963M
p.L963M

10.4

-

Fu2022 E

WWC1

176_19au

chr5:
167857109-167857109

A

G

intronic

De novo

-

-

Fu2022 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
	More