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Results for "KAT6A"

Variant Events: 37

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
KAT6A     ACGC_HEN0202.p1chr8:
41792353-41792353		GAexonicDe novostopgainNM_006766c.C3385Tp.R1129X41.0-Wang2020 T
KAT6A     SP0016135chr8:
41798907-41798907		CGexonicDe novononsynonymous SNVNM_006766c.G2492Cp.S831T10.56-Fu2022 E
Trost2022 G
Zhou2022 GE
KAT6A     AU076704chr8:
42004718-42004718		CTintergenicDe novo--Yuen2017 G
KAT6A     SP0073806chr8:
41834472-41834472		GCintronicDe novo--Fu2022 E
KAT6A     SP0137696chr8:
41812816-41812816		TGexonicDe novosynonymous SNVNM_001305878
NM_006766		c.A1596C
c.A1596C		p.S532S
p.S532S		--Fu2022 E
KAT6A     2-1567-003chr8:
41884568-41884568		CCAintronicDe novo--Trost2022 G
Yuen2017 G
KAT6A     AGRE_03C14348chr8:
41795085-41795087		TTCTexonicUnknownframeshift deletionNM_006766c.3040_3040delp.K1014fs--Wang2020 T
KAT6A     Leuven_142997chr8:
41906038-41906038		CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766		c.G458A
c.G458A		p.R153H
p.R153H		16.09-Wang2020 T
KAT6A     AGRE_08C75171chr8:
41839431-41839431		GAexonicUnknownstopgainNM_001305878
NM_006766		c.C751T
c.C751T		p.R251X
p.R251X		41.0-Wang2020 T
KAT6A     EGAN00001100935chr8:
41794923-41794923		TCexonicDe novononsynonymous SNVNM_006766c.A3203Gp.D1068G13.02-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KAT6A     Leuven2_81951980chr8:
41906038-41906038		CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766		c.G458A
c.G458A		p.R153H
p.R153H		16.09-Wang2020 T
KAT6A     Leuven_274419chr8:
41838415-41838415		GAexonicUnknownstopgainNM_001305878
NM_006766		c.C856T
c.C856T		p.R286X
p.R286X		43.0-Wang2020 T
KAT6A     AU4168306chr8:
41904976-41904976		GCintronicDe novo--Trost2022 G
Yuen2017 G
KAT6A     PN400562chr8:
41836193-41836193		CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766		c.G1010A
c.G1010A		p.R337H
p.R337H		17.563.295E-5Leblond2019 E
KAT6A     Wang2023:83chr8:
41791423-41791427		GCTCAGexonicDe novoframeshift deletionNM_006766c.4311_4314delp.S1437fs--Wang2023 E
KAT6A     AGRE_02C12260chr8:
41839367-41839367		CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766		c.G815A
c.G815A		p.G272D
p.G272D		17.838.547E-6Wang2020 T
KAT6A     ACGC_M17455chr8:
41794924-41794924		CAexonicUnknownnonsynonymous SNVNM_006766c.G3202Tp.D1068Y14.793.295E-5Wang2020 T
KAT6A     AU3649305 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
KAT6A     Lee2020:76chr8:
41792282-41792282		CTexonicstopgainNM_006766c.G3456Ap.W1152X45.0-Lee2020 T
KAT6A     REACH000163chr8:
41792872-41792872		GAintronicDe novo--Trost2022 G
KAT6A     1-0158-012chr8:
42002203-42002203		AGintergenicDe novo--Yuen2017 G
KAT6A     AU2950301chr8:
41861663-41861663		AGintronicDe novo--Trost2022 G
Yuen2017 G
KAT6A     PN400560chr8:
41836193-41836193		CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766		c.G1010A
c.G1010A		p.R337H
p.R337H		17.563.295E-5Leblond2019 E
KAT6A     MSSNG00030-003chr8:
41884431-41884432		GCGintronicDe novo--Trost2022 G
KAT6A     ACGC_HN0240.p1chr8:
41906038-41906038		CAexonicPaternalnonsynonymous SNVNM_001305878
NM_006766		c.G458T
c.G458T		p.R153L
p.R153L		15.961.651E-5Wang2020 T
KAT6A     12108_p1chr8:
41906209-41906213		TTTTGTexonicDe novoframeshift deletionNM_001305878
NM_006766		c.283_286del
c.283_286del		p.Q95fs
p.Q95fs		--Fu2022 E
KAT6A     MSSNG00341-003chr8:
41844106-41844106		TAintronicDe novo--Trost2022 G
KAT6A     ACGC_GD0206.p1chr8:
41906038-41906038		CAexonicPaternalnonsynonymous SNVNM_001305878
NM_006766		c.G458T
c.G458T		p.R153L
p.R153L		15.961.651E-5Wang2020 T
KAT6A     Costa2023:P10-1chr8:
41798361-41798361		TCexonicDe novononsynonymous SNVNM_006766c.A3038Gp.K1013R13.73-Costa2023 E
KAT6A     REACH000431chr8:
41868084-41868084		GCintronicDe novo--Trost2022 G
KAT6A     SJD_74.3chr8:
41807563-41807563		AGintronicDe novo--Trost2022 G
KAT6A     7-0429-003chr8:
41818678-41818678		TCintronicDe novo--Trost2022 G
KAT6A     2-1222-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2016 G
Yuen2017 G
KAT6A     SF0016135.p1chr8:
41798907-41798907		CGexonicnonsynonymous SNVNM_006766c.G2492Cp.S831T10.56-Wang2020 T
KAT6A     PN400559chr8:
41836193-41836193		CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766		c.G1010A
c.G1010A		p.R337H
p.R337H		17.563.295E-5Leblond2019 E
KAT6A     12108.p1chr8:
41906209-41906213		TTTTGTexonicDe novoframeshift deletionNM_001305878
NM_006766		c.283_286del
c.283_286del		p.Q95fs
p.Q95fs		--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
KAT6A     SSC05752chr8:
41906209-41906213		TTTTGTexonicframeshift deletionNM_001305878
NM_006766		c.283_286del
c.283_286del		p.Q95fs
p.Q95fs		--Antaki2022 GE
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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.
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