or
or
Exact

Results for "WWC1"

Variant Events: 21

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     A25chr5:
167850167-167850167
AAAAAAAAACintronicDe novo--Wu2018 G
WWC1     13171.p1chr5:
167730794-167730794
CTintronicDe novo--Turner2016 G
WWC1     74-0355chr5:
167797802-167797802
CTintronicDe novo--Michaelson2012 G
WWC1     2-1620-004chr5:
167794246-167794246
TGintronicDe novo--Yuen2017 G
WWC1     AU072904chr5:
167778263-167778265
CAGCintronicDe novo--Yuen2017 G
WWC1     Chen2017:90chr5:
167887718-167887718
CAexonicDe novononsynonymous SNVNM_001161661
NM_001161662
NM_015238
c.C2887A
c.C2887A
c.C2887A
p.L963M
p.L963M
p.L963M
10.4-Chen2017 E
WWC1     1-0458-005chr5:
167790201-167790201
AGintronicDe novo--Yuen2017 G
WWC1     1-0289-003chr5:
167910695-167910695
TGintergenicDe novo--Yuen2017 G
WWC1     7-0129-003chr5:
167858742-167858742
ACintronicDe novo--Yuen2017 G
WWC1     152-HSC0079chr5:
167841447-167841447
GAexonicInheritednonsynonymous SNVNM_001161661
NM_001161662
NM_015238
c.G1036A
c.G1036A
c.G1036A
p.E346K
p.E346K
p.E346K
36.0-Patowary2019 E
WWC1     AU069603chr5:
167781949-167781949
CTintronicDe novo--Yuen2017 G
WWC1     2-1140-003chr5:
167740672-167740672
CTintronicDe novo--Yuen2017 G
WWC1     3-0111-000chr5:
167855373-167855373
GAintronicDe novo--Yuen2016 G
WWC1     1-0756-003chr5:
167837999-167837999
GAintronicDe novo--Yuen2017 G
WWC1     A27chr5:
167842944-167842944
CTintronicDe novo--Wu2018 G
WWC1     AU4069302chr5:
167877502-167877502
CTintronicDe novo--Yuen2017 G
WWC1     EGAN00001101018chr5:
167719310-167719310
ACintronicDe novo--Satterstrom2020 E
WWC1     200675594@1082034690chr5:
167887718-167887718
CAexonicDe novononsynonymous SNVNM_001161661
NM_001161662
NM_015238
c.C2887A
c.C2887A
c.C2887A
p.L963M
p.L963M
p.L963M
10.4-Satterstrom2020 E
WWC1     AU036203chr5:
167855727-167855727
AGexonicDe novosynonymous SNVNM_001161661
NM_001161662
NM_015238
c.A1935G
c.A1935G
c.A1935G
p.E645E
p.E645E
p.E645E
12.04-Yuen2017 G
WWC1     08C75239chr5:
167848966-167848966
CTintronicDe novo--Satterstrom2020 E
WWC1     2-1194-003chr5:
167888387-167888387
GAintronicDe novo--Yuen2016 G
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 notesView
More