Variant Results

or

Results for "SUPT16H"

Variant Events: 15

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

SUPT16H

SP0159982

chr14:
21826479-21826479

G

C

exonic

De novo

nonsynonymous SNV

NM_007192

c.C2409G

p.D803E

3.749

-

Trost2022 G

SUPT16H

SP0162300

chr14:
21852055-21852055

T

C

exonic

De novo

nonsynonymous SNV

NM_007192

c.A32G

p.Y11C

13.07

-

Trost2022 G

SUPT16H

11089.p1

chr14:
21828671-21828671

C

T

exonic

De novo

nonsynonymous SNV

NM_007192

c.G2078A

p.R693Q

36.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Turner2016 G
Turner2017 G
Zhou2022 GE

SUPT16H

211-5200-3

chr14:
21830474-21830478

TACTT

T

exonic

Inherited

frameshift deletion

NM_007192

c.1671_1674del

p.I557fs

-

Stessman2017 T

SUPT16H

MSSNG00358-004

chr14:
21820171-21820171

A

T

UTR3

De novo

-

Trost2022 G
Trost2022 G

SUPT16H

1-0226-005

chr14:
21852677-21852677

A

G

downstream;upstream

De novo

-

Trost2022 G
Yuen2017 G

SUPT16H

SP0159982

chr14:
21826137-21826137

A

G

exonic

De novo

synonymous SNV

NM_007192

c.T2439C

p.S813S

-

Trost2022 G

SUPT16H

1018

chr14:
21820117-21820117

A

AG

UTR3

De novo

-

Trost2022 G
Trost2022 G

SUPT16H

03C16160

chr14:
21834599-21834599

C

G

exonic

Unknown

nonsynonymous SNV

NM_007192

c.G1045C

p.G349R

29.9

-

Stessman2017 T

SUPT16H

AU3053301

chr14:
21843371-21843371

C

T

intronic

De novo

-

Yuen2017 G

SUPT16H

A26

chr14:
21847464-21847464

A

C

intronic

De novo

-

Wu2018 G

SUPT16H

SP0019174

chr14:
21852090-21852090

C

G

UTR5

De novo

-

Fu2022 E
Trost2022 G

SUPT16H

08C76787

chr14:
21840833-21840833

G

A

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G

SUPT16H

SSC02645

chr14:
21828671-21828671

C

T

exonic

De novo

nonsynonymous SNV

NM_007192

c.G2078A

p.R693Q

36.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

SUPT16H

Mahjani2021:9

chr14:
21834667-21834667

T

C

exonic

nonsynonymous SNV

NM_007192

c.A977G

p.Y326C

18.0

-

Mahjani2021 E

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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