Variant Results

or

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

M23065

chr3:
20164252-20164252

G

T

exonic

Paternal

nonsynonymous SNV

NM_003884

c.G1369T

p.V457F

36.0

4.0E-4

Wang2016 T

KAT2B

220-9949-201

chr3:
20187860-20187860

C

G

exonic

Unknown

nonsynonymous SNV

NM_003884

c.C2057G

p.P686R

28.6

8.26E-6

Stessman2017 T

KAT2B

M08626

chr3:
20164252-20164252

G

T

exonic

Paternal

nonsynonymous SNV

NM_003884

c.G1369T

p.V457F

36.0

4.0E-4

Wang2016 T

KAT2B

M23278

chr3:
20164268-20164268

C

T

exonic

Maternal

nonsynonymous SNV

NM_003884

c.C1385T

p.T462M

36.0

8.293E-6

Guo2018 T
Wang2016 T

KAT2B

2-1518-003

chr3:
20192814-20192814

T

C

intronic

De novo

-

Yuen2017 G

KAT2B

AU047904

chr3:
20188050-20188050

C

G

intronic

De novo

-

Yuen2017 G

KAT2B

AU1087301

chr3:
20142791-20142793

TTT

T

exonic

Inherited

frameshift deletion

NM_003884

c.683_684del

p.F228fs

-

Stessman2017 T

KAT2B

M30357

chr3:
20153107-20153107

G

A

exonic

Paternal

nonsynonymous SNV

NM_003884

c.G871A

p.V291M

32.0

-

Guo2018 T

KAT2B

2-1290-004

chr3:
20144557-20144557

T

C

intronic

De novo

-

Yuen2017 G

KAT2B

7-0273-003

chr3:
20188832-20188832

G

A

intronic

De novo

-

Yuen2017 G

KAT2B

SSC03014

chr3:
20161089-20161089

G

A

splicing

16.71

-

Antaki2022 GE

KAT2B

11592.p1

chr3:
20161089-20161089

G

A

splicing

Mosaic, De novo

splicing

16.71

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Wilfert2021 G

KAT2B

M02033

chr3:
20168949-20168949

C

T

exonic

Paternal

nonsynonymous SNV

NM_003884

c.C1657T

p.R553C

33.0

3.295E-5

Guo2018 T
Wang2016 T

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 notes	View
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