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Results for "KAT2B"

Variant Events: 13

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
KAT2B     M23065chr3:
20164252-20164252
GTexonicPaternalnonsynonymous SNVNM_003884c.G1369Tp.V457F36.04.0E-4Wang2016 T
KAT2B     220-9949-201chr3:
20187860-20187860
CGexonicUnknownnonsynonymous SNVNM_003884c.C2057Gp.P686R28.68.26E-6Stessman2017 T
KAT2B     M08626chr3:
20164252-20164252
GTexonicPaternalnonsynonymous SNVNM_003884c.G1369Tp.V457F36.04.0E-4Wang2016 T
KAT2B     M23278chr3:
20164268-20164268
CTexonicMaternalnonsynonymous SNVNM_003884c.C1385Tp.T462M36.08.293E-6Guo2018 T
Wang2016 T
KAT2B     2-1518-003chr3:
20192814-20192814
TCintronicDe novo--Yuen2017 G
KAT2B     AU047904chr3:
20188050-20188050
CGintronicDe novo--Yuen2017 G
KAT2B     AU1087301chr3:
20142791-20142793
TTTTexonicInheritedframeshift deletionNM_003884c.683_684delp.F228fs--Stessman2017 T
KAT2B     M30357chr3:
20153107-20153107
GAexonicPaternalnonsynonymous SNVNM_003884c.G871Ap.V291M32.0-Guo2018 T
KAT2B     2-1290-004chr3:
20144557-20144557
TCintronicDe novo--Yuen2017 G
KAT2B     7-0273-003chr3:
20188832-20188832
GAintronicDe novo--Yuen2017 G
KAT2B     SSC03014chr3:
20161089-20161089
GAsplicingsplicing16.71-Antaki2022 GE
KAT2B     11592.p1chr3:
20161089-20161089
GAsplicingDe novo, Mosaicsplicing16.71-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Wilfert2021 G
KAT2B     M02033chr3:
20168949-20168949
CTexonicPaternalnonsynonymous SNVNM_003884c.C1657Tp.R553C33.03.295E-5Guo2018 T
Wang2016 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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