or
or
Exact

Results for "KAT6B"

Variant Events: 36

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     SanDiego_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
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     SanDiego_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
KAT6B     Leuven_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
KAT6B     Leuven_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
KAT6B     12568.p1chr10:
76603700-76603700
TCintronicDe novo--Turner2016 G
KAT6B     ACGC_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
KAT6B     Leuven2_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
KAT6B     12568.p1chr10:
76603702-76603702
AGintronicDe novo--Turner2016 G
KAT6B     ACGC_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
KAT6B     Leuven2_80863418chr10:
76719731-76719732
CGCexonicUnknownframeshift deletionNM_001256468
NM_001256469
NM_012330
c.626delG
c.626delG
c.626delG
p.R209fs
p.R209fs
p.R209fs
--Wang2020 T
KAT6B     12568.p1chr10:
76603693-76603693
GAintronicDe novo--Turner2016 G
KAT6B     Iowa_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     12568.p1chr10:
76603696-76603696
GAintronicDe novo--Turner2016 G
KAT6B     7-0102-003chr10:
76616621-76616621
TCintronicDe novo--Yuen2017 G
KAT6B     ACGC_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
KAT6B     Iowa_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     Courchesne_S5J9Mchr10:
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     Gecz1_890chr10:
76602851-76602851
GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330
c.G236A
c.G236A
c.G236A
p.R79H
p.R79H
p.R79H
18.68-Wang2020 T
KAT6B     11572.p1chr10:
76739598-76739598
AGintronicDe novo--Turner2016 G
KAT6B     Leuven2_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     12498.p1chr10:
76760016-76760016
GCintronicDe novo--Turner2016 G
KAT6B     Iowa_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     1-0208-003chr10:
76664362-76664362
CTintronicDe novo--Yuen2017 G
KAT6B     SanDiego_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
KAT6B     AGRE_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
KAT6B     Gecz1_888chr10:
76602851-76602851
GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330
c.G236A
c.G236A
c.G236A
p.R79H
p.R79H
p.R79H
18.68-Wang2020 T
KAT6B     NDAR_INVCK592EMP_wes1chr10:
76729751-76729751
AGintronicDe novo-9.43E-6Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
KAT6B     Gecz1_879chr10:
76602851-76602851
GAexonicUnknownnonsynonymous SNVNM_001256468
NM_001256469
NM_012330
c.G236A
c.G236A
c.G236A
p.R79H
p.R79H
p.R79H
18.68-Wang2020 T
KAT6B     ACGC_SD0306.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
KAT6B     ACGC_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
KAT6B     11665.p1chr10:
76781848-76781848
CAexonicUnknown, De 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     7-0194-003chr10:
76771033-76771033
TAintronicDe novo--Yuen2017 G
KAT6B     AU3051303chr10:
76629738-76629738
AGintronicDe novo--Yuen2017 G
KAT6B     1-0652-003chr10:
76710765-76710765
GAintronicDe novo--Yuen2017 G
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