or
or
Exact

Results for "WDHD1"

Variant Events: 12

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
WDHD1     DEASD_0157_001chr14:
55477154-55477154
AGexonicDe novononsynonymous SNVNM_007086c.T214Cp.S72P23.8-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
WDHD1     1-0272-003chr14:
55443070-55443070
GAintronicDe novo--Yuen2017 G
WDHD1     iHART1034chr14:
55434063-55434064
CACexonicPaternalframeshift deletionNM_001008396
NM_007086
c.1743delT
c.2112delT
p.P581fs
p.P704fs
--Ruzzo2019 G
WDHD1     iHART2472chr14:
55429761-55429761
CAexonicPaternalstopgainNM_001008396
NM_007086
c.G2071T
c.G2440T
p.E691X
p.E814X
42.0-Ruzzo2019 G
WDHD1     iHART2219chr14:
55454070-55454070
GCexonicPaternalstopgainNM_001008396
NM_007086
c.C1193G
c.C1562G
p.S398X
p.S521X
41.0-Ruzzo2019 G
WDHD1     2-0704-003chr14:
55453400-55453400
TCintronicDe novo--Yuen2016 G
Yuen2017 G
WDHD1     iHART2222chr14:
55454070-55454070
GCexonicPaternalstopgainNM_001008396
NM_007086
c.C1193G
c.C1562G
p.S398X
p.S521X
41.0-Ruzzo2019 G
WDHD1     1-0126-004chr14:
55486245-55486245
CTintronicDe novo--Yuen2017 G
WDHD1     AU2089302chr14:
55480789-55480789
GAintronicDe novo--Yuen2017 G
WDHD1     7-0273-003chr14:
55423492-55423492
ACintronicDe novo--Yuen2017 G
WDHD1     iHART2564chr14:
55411082-55411082
GAexonicPaternalstopgainNM_001008396
NM_007086
c.C2788T
c.C3157T
p.R930X
p.R1053X
42.01.0E-4Ruzzo2019 G
WDHD1     iHART2565chr14:
55411082-55411082
GAexonicPaternalstopgainNM_001008396
NM_007086
c.C2788T
c.C3157T
p.R930X
p.R1053X
42.01.0E-4Ruzzo2019 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