or
or
Exact

Results for "TAF6"

Variant Events: 6

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
TAF6     13560.p1chr7:
99711308-99711308
TCexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.A439G
c.A328G
c.A328G
p.K147E
p.K110E
p.K110E
15.058.241E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
TAF6     13732.p1chr7:
99711522-99711522
AGexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.T323C
c.T212C
c.T212C
p.I108T
p.I71T
p.I71T
20.53.295E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TAF6     iHART1217chr7:
99709547-99709547
CAexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.G907T
c.G796T
c.G796T
p.G303W
p.G266W
p.G266W
29.6-Ruzzo2019 G
TAF6     7-0055-003chr7:
99709547-99709547
CAexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.G907T
c.G796T
c.G796T
p.G303W
p.G266W
p.G266W
29.6-Yuen2017 G
TAF6     2-1184-003chr7:
99711376-99711376
TCexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.A371G
c.A260G
c.A260G
p.H124R
p.H87R
p.H87R
13.13-Yuen2016 G
Yuen2017 G
TAF6     08C73985chr7:
99711376-99711376
TCexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315
c.A371G
c.A260G
c.A260G
p.H124R
p.H87R
p.H87R
13.13-Satterstrom2020 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 notesView
More