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Results for "HECW2"

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
HECW2     AU4013301chr2:
197385049-197385049
AGintronicDe novo--Yuen2017 G
HECW2     13393.p1chr2:
197362902-197362902
TGintronicDe novo--Turner2016 G
HECW2     AU1542301chr2:
197441780-197441780
CGintronicDe novo--Yuen2017 G
HECW2     1-0368-004chr2:
197472311-197472311
CTintergenicDe novo--Yuen2017 G
HECW2     AU057404chr2:
197487038-197487038
GAintergenicDe novo--Yuen2017 G
HECW2     11978.p1chr2:
197106887-197106887
GAexonicDe novononsynonymous SNVNM_001304840
NM_020760
c.C2503T
c.C3571T
p.R835W
p.R1191W
18.67-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
HECW2     2-1005-003chr2:
197076710-197076710
GAintronicDe novo--Yuen2017 G
HECW2     2-1322-004chr2:
197453167-197453167
ATintronicDe novo--Yuen2017 G
HECW2     AU1894304chr2:
197471249-197471249
TAintergenicDe novo--Yuen2017 G
HECW2     14606.p1chr2:
197084846-197084846
TCexonicMosaic, De novononsynonymous SNVNM_001304840
NM_020760
c.A3257G
c.A4325G
p.D1086G
p.D1442G
26.1-Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
HECW2     2-1251-003chr2:
197275020-197275020
TCintronicDe novo--Yuen2017 G
HECW2     2-0244-004chr2:
197492967-197492967
AGintergenicDe novo--Yuen2017 G
HECW2     09C79813chr2:
197122666-197122666
GGTAGAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
HECW2     1-0278-003chr2:
197159597-197159597
GCintronicDe novo--Yuen2016 G
HECW2     5-0026-003chr2:
197190897-197190897
CTintronicDe novo--Yuen2017 G
HECW2     SSC03717chr2:
197106887-197106887
GAexonicDe novononsynonymous SNVNM_001304840
NM_020760
c.C2503T
c.C3571T
p.R835W
p.R1191W
18.67-Lim2017 E
Source Variant Information

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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
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