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Results for "KAT6A"

Variant Events: 24

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     Lee2020:76chr8:
41792282-41792282
CTexonicstopgainNM_006766c.G3456Ap.W1152X45.0-Lee2020 T
KAT6A     HEN0202.p1chr8:
41792353-41792353
GAexonicDe novostopgainNM_006766c.C3385Tp.R1129X41.0-Wang2020 T
Wang2020 T
KAT6A     274419chr8:
41838415-41838415
GAexonicUnknownstopgainNM_001305878
NM_006766
c.C856T
c.C856T
p.R286X
p.R286X
43.0-Wang2020 T
Wang2020 T
KAT6A     1-0158-012chr8:
42002203-42002203
AGintergenicDe novo--Yuen2017 G
KAT6A     03C14348chr8:
41795085-41795087
TTCTexonicUnknownframeshift deletionNM_006766c.3040_3040delp.K1014fs--Wang2020 T
Wang2020 T
KAT6A     AU2950301chr8:
41861663-41861663
AGintronicDe novo--Yuen2017 G
KAT6A     08C75171chr8:
41839431-41839431
GAexonicUnknownstopgainNM_001305878
NM_006766
c.C751T
c.C751T
p.R251X
p.R251X
41.0-Wang2020 T
Wang2020 T
KAT6A     PN400560chr8:
41836193-41836193
CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766
c.G1010A
c.G1010A
p.R337H
p.R337H
17.563.295E-5Leblond2019 E
KAT6A     AU076704chr8:
42004718-42004718
CTintergenicDe novo--Yuen2017 G
KAT6A     2-1567-003chr8:
41884568-41884568
CCAintronicDe novo--Yuen2017 G
KAT6A     02C12260chr8:
41839367-41839367
CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766
c.G815A
c.G815A
p.G272D
p.G272D
17.838.547E-6Wang2020 T
Wang2020 T
KAT6A     HN0240.p1chr8:
41906038-41906038
CAexonicPaternal, Unknownnonsynonymous SNVNM_001305878
NM_006766
c.G458T
c.G458T
p.R153L
p.R153L
15.961.651E-5Wang2020 T
Wang2020 T
Wang2020 T
KAT6A     2-1222-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
KAT6A     SF0016135.p1chr8:
41798907-41798907
CGexonicDe novononsynonymous SNVNM_006766c.G2492Cp.S831T10.56-Wang2020 T
KAT6A     EGAN00001100935chr8:
41794923-41794923
TCexonicDe novononsynonymous SNVNM_006766c.A3203Gp.D1068G13.02-Satterstrom2020 E
KAT6A     AU4168306chr8:
41904976-41904976
GCintronicDe novo--Yuen2017 G
KAT6A     142997chr8:
41906038-41906038
CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766
c.G458A
c.G458A
p.R153H
p.R153H
16.09-Wang2020 T
Wang2020 T
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     M17455chr8:
41794924-41794924
CAexonicUnknownnonsynonymous SNVNM_006766c.G3202Tp.D1068Y14.793.295E-5Wang2020 T
Wang2020 T
KAT6A     PN400562chr8:
41836193-41836193
CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766
c.G1010A
c.G1010A
p.R337H
p.R337H
17.563.295E-5Leblond2019 E
KAT6A     81951980chr8:
41906038-41906038
CTexonicUnknownnonsynonymous SNVNM_001305878
NM_006766
c.G458A
c.G458A
p.R153H
p.R153H
16.09-Wang2020 T
Wang2020 T
KAT6A     GD0206.p1chr8:
41906038-41906038
CAexonicPaternalnonsynonymous SNVNM_001305878
NM_006766
c.G458T
c.G458T
p.R153L
p.R153L
15.961.651E-5Wang2020 T
Wang2020 T
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
Wang2020 T
Wilfert2021 G
KAT6A     AU3649305chr8:
41822403-41822405
ATGATGTGintronicDe novo--Yuen2017 G
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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