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Results for "KAT6B"

Variant Events: 32

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
KAT6B     SP0019308chr10:
76735602-76735602		CTexonicInheritedstopgainNM_012330c.C1507Tp.Q503X43.0-Feliciano2019 E
KAT6B     11334.p1chr10:
76789588-76789588		AGexonicMosaicnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.A4457G
c.A4130G
c.A5006G		p.D1486G
p.D1377G
p.D1669G		14.52-Dou2017 E
KAT6B     12568.p1chr10:
76603700-76603700		TCintronicDe novo--Turner2016 G
KAT6B     12568.p1chr10:
76603702-76603702		AGintronicDe novo--Turner2016 G
KAT6B     12568.p1chr10:
76603693-76603693		GAintronicDe novo--Turner2016 G
KAT6B     12568.p1chr10:
76603696-76603696		GAintronicDe novo--Turner2016 G
KAT6B     7-0102-003chr10:
76616621-76616621		TCintronicDe novo--Yuen2017 G
KAT6B     222_4_a.2.1chr10:
76781645-76781645		CTexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C2479T
c.C2152T
c.C3028T		p.R827W
p.R718W
p.R1010W		13.921.655E-5Wang2020 T
KAT6B     61513982chr10:
76741661-76741661		GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.G1799A
c.G1472A
c.G2348A		p.R600Q
p.R491Q
p.R783Q		23.8-Wang2020 T
Wang2020 T
KAT6B     60989928chr10:
76781645-76781645		CTexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C2479T
c.C2152T
c.C3028T		p.R827W
p.R718W
p.R1010W		13.921.655E-5Wang2020 T
KAT6B     11572.p1chr10:
76739598-76739598		AGintronicDe novo--Turner2016 G
KAT6B     12498.p1chr10:
76760016-76760016		GCintronicDe novo--Turner2016 G
KAT6B     1-0208-003chr10:
76664362-76664362		CTintronicDe novo--Yuen2017 G
KAT6B     80863418chr10:
76719731-76719732		CGCexonicUnknownframeshift deletionNM_001256468
NM_001256469
NM_012330		c.626delG
c.626delG
c.626delG		p.R209fs
p.R209fs
p.R209fs		--Wang2020 T
Wang2020 T
KAT6B     NDAR_INVCK592EMP_wes1chr10:
76729751-76729751		AGintronicDe novo-9.43E-6Kosmicki2017 E
Satterstrom2020 E
KAT6B     221_4_a.2.1chr10:
76789972-76789972		GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.G4841A
c.G4514A
c.G5390A		p.R1614Q
p.R1505Q
p.R1797Q		17.951.65E-5Wang2020 T
KAT6B     SD0306.p1chr10:
76789416-76789416		CTexonicPaternal, Unknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C4285T
c.C3958T
c.C4834T		p.R1429C
p.R1320C
p.R1612C		13.444.12E-5Wang2020 T
Wang2020 T
Wang2020 T
KAT6B     Q6R5Cchr10:
76790419-76790419		GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.G5288A
c.G4961A
c.G5837A		p.R1763H
p.R1654H
p.R1946H		17.38.238E-6Wang2020 T
Wang2020 T
KAT6B     11665.p1chr10:
76781848-76781848		CAexonicDe novononsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C2682A
c.C2355A
c.C3231A		p.D894E
p.D785E
p.D1077E		0.013-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
KAT6B     221_3_a.2.1chr10:
76789972-76789972		GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.G4841A
c.G4514A
c.G5390A		p.R1614Q
p.R1505Q
p.R1797Q		17.951.65E-5Wang2020 T
KAT6B     7-0194-003chr10:
76771033-76771033		TAintronicDe novo--Yuen2017 G
KAT6B     AU3051303chr10:
76629738-76629738		AGintronicDe novo--Yuen2017 G
KAT6B     F9A9Ychr10:
76602922-76602922		CTexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C307T
c.C307T
c.C307T		p.R103C
p.R103C
p.R103C		17.161.0E-4Wang2020 T
Wang2020 T
KAT6B     GD0036.p1chr10:
76602719-76602719		CTexonicMaternalnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C104T
c.C104T
c.C104T		p.A35V
p.A35V
p.A35V		18.92.471E-5Wang2020 T
Wang2020 T
KAT6B     280779chr10:
76780406-76780406		GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.G2147A
c.G1820A
c.G2696A		p.R716H
p.R607H
p.R899H		17.322.473E-5Wang2020 T
Wang2020 T
KAT6B     SD0049.p1chr10:
76789416-76789416		CTexonicPaternalnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C4285T
c.C3958T
c.C4834T		p.R1429C
p.R1320C
p.R1612C		13.444.12E-5Wang2020 T
Wang2020 T
KAT6B     J6X6Xchr10:
76790419-76790419		GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.G5288A
c.G4961A
c.G5837A		p.R1763H
p.R1654H
p.R1946H		17.38.238E-6Wang2020 T
Wang2020 T
KAT6B     1-0652-003chr10:
76710765-76710765		GAintronicDe novo--Yuen2017 G
KAT6B     HEN438.p1chr10:
76788384-76788384		GAexonicMaternalnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.G3253A
c.G2926A
c.G3802A		p.G1085R
p.G976R
p.G1268R		19.498.24E-6Wang2020 T
Wang2020 T
KAT6B     05C49310chr10:
76790452-76790452		GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.G5321A
c.G4994A
c.G5870A		p.R1774Q
p.R1665Q
p.R1957Q		16.064.119E-5Wang2020 T
Wang2020 T
KAT6B     GD0056.p1chr10:
76784752-76784752		CTexonicMaternalnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C2860T
c.C2533T
c.C3409T		p.R954C
p.R845C
p.R1137C		18.23-Wang2020 T
Wang2020 T
KAT6B     254265chr10:
76784798-76784798		CTexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330		c.C2906T
c.C2579T
c.C3455T		p.T969M
p.T860M
p.T1152M		16.331.648E-5Wang2020 T
Wang2020 T
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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