or
or
Exact

Results for "TAF6"

Variant Events: 18

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     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-Trost2022 G
Yuen2017 G
Zhou2022 GE
TAF6     AU3782303chr7:
99717316-99717316		AGsplicingMaternalsplicing3.0691.0E-4Cirnigliaro2023 G
TAF6     SP0121460chr7:
99710430-99710430		CTexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315		c.G676A
c.G565A
c.G565A		p.D226N
p.D189N
p.D189N		13.26-Fu2022 E
Trost2022 G
Zhou2022 GE
TAF6     SP0112807chr7:
99707650-99707650		CTexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315		c.G1316A
c.G1205A
c.G1205A		p.R439Q
p.R402Q
p.R402Q		19.753.295E-5Fu2022 E
Trost2022 G
Zhou2022 GE
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
Zhou2022 GE
TAF6     SP0031076chr7:
99717321-99717321		CGexonicDe novononsynonymous SNVNM_001190415c.G49Cp.E17Q7.394-Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE
TAF6     SMHC00811s000chr7:
99711695-99711695		GGCGGTexonicDe novoframeshift insertionNM_001190415
NM_005641
NM_139315		c.248_249insACCG
c.137_138insACCG
c.137_138insACCG		p.R83fs
p.R46fs
p.R46fs		--Yuan2023 E
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
Zhou2022 GE
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
Zhou2022 GE
TAF6     Wang2023:811chr7:
99711695-99711695		GGCGGTexonicDe novoframeshift insertionNM_001190415
NM_005641
NM_139315		c.248_249insACCG
c.137_138insACCG
c.137_138insACCG		p.R83fs
p.R46fs
p.R46fs		--Wang2023 E
TAF6     31758chr7:
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-6Fu2022 E
Trost2022 G
TAF6     SSC09404chr7:
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-5Fu2022 E
Trost2022 G
TAF6     mAGRE1217chr7:
99709547-99709547		CAexonicDe novononsynonymous SNVNM_001190415
NM_005641
NM_139315		c.G907T
c.G796T
c.G796T		p.G303W
p.G266W
p.G266W		29.6-Cirnigliaro2023 G
TAF6     2-1335-003chr7:
99709335-99709335		GCAintronicDe novo--Trost2022 G
TAF6     SP0015416chr7:
99710610-99710610		GAintronicDe novo--Trost2022 G
TAF6     MSSNG00378-003chr7:
99706362-99706362		GAintronicDe novo--Trost2022 G
Trost2022 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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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

VariCarta Copyright © 2016-2023 Contact Us