Variant Results

or

Results for "HDAC9"

Variant Events: 78

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

HDAC9

SP0104021

chr7:
18708313-18708313

T

C

UTR3

De novo

-

Fu2022 E

HDAC9

3-0661-000

chr7:
18567126-18567126

G

A

intronic

De novo

-

Yuen2017 G

HDAC9

SP0066312

chr7:
18688059-18688059

A

G

intronic

De novo

-

Fu2022 E

HDAC9

2-1313-003

chr7:
19138514-19138514

G

A

intergenic

De novo

-

Yuen2017 G

HDAC9

SP0033471

chr7:
18706665-18706665

A

T

UTR3

De novo

-

Fu2022 E

HDAC9

SP0068701

chr7:
18706258-18706258

G

A

UTR3

De novo

-

Fu2022 E

HDAC9

2-1148-004

chr7:
19038557-19038557

C

T

intergenic

De novo

-

Yuen2017 G

HDAC9

AU066404

chr7:
18224874-18224874

C

G

intronic

De novo

-

Yuen2017 G

HDAC9

1-0971-003

chr7:
18524029-18524029

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

3-0169-000

chr7:
19063396-19063396

C

G

intergenic

De novo

-

Yuen2016 G

HDAC9

1-0019-004

chr7:
19031087-19031087

T

C

intronic

De novo

-

Yuen2017 G

HDAC9

1-0541-003

chr7:
18751961-18751961

G

A

intronic

De novo

-

Yuen2017 G

HDAC9

13076.p1

chr7:
18624949-18624949

C

T

exonic

De novo

nonsynonymous SNV

NM_058176
NM_178425
NM_001204145
NM_001204146
NM_014707
NM_178423
NM_001204144

c.C68T
c.C68T
c.C68T
c.C68T
c.C68T
c.C68T
c.C194T

p.P23L
p.P23L
p.P23L
p.P23L
p.P23L
p.P23L
p.P65L

35.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G

HDAC9

1-0049-004

chr7:
18196507-18196507

T

G

intronic

De novo

-

Yuen2017 G

HDAC9

1-0389-004

chr7:
19071204-19071206

TTC

T

intergenic

De novo

-

Yuen2017 G

HDAC9

SSC06722

chr7:
18624949-18624949

C

T

exonic

De novo

nonsynonymous SNV

NM_058176
NM_178425
NM_001204145
NM_001204146
NM_014707
NM_178423
NM_001204144

c.C68T
c.C68T
c.C68T
c.C68T
c.C68T
c.C68T
c.C194T

p.P23L
p.P23L
p.P23L
p.P23L
p.P23L
p.P23L
p.P65L

35.0

-

Fu2022 E
Lim2017 E

HDAC9

1-0373-003

chr7:
18273103-18273103

C

T

intronic

De novo

-

Yuen2017 G

HDAC9

M13360

chr7:
18668997-18668997

G

A

exonic

Unknown

nonsynonymous SNV

NM_001204148
NM_058176
NM_178425
NM_014707
NM_178423

c.G596A
c.G680A
c.G689A
c.G680A
c.G680A

p.R199Q
p.R227Q
p.R230Q
p.R227Q
p.R227Q

20.9

-

Stessman2017 T

HDAC9

1-0914-003

chr7:
18975049-18975049

C

A

intronic

De novo

-

Yuen2017 G

HDAC9

AU2108302

chr7:
18628890-18628890

C

G

intronic

De novo

-

Yuen2017 G

HDAC9

AU3905301

chr7:
18304955-18304955

C

T

intronic

De novo

-

Yuen2017 G

HDAC9

AU2019302

chr7:
18236561-18236561

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

2-0210-005

chr7:
18484114-18484114

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

AU1687302

chr7:
18774220-18774220

T

C

intronic

De novo

-

Yuen2017 G

HDAC9

AU4483301

chr7:
19015498-19015498

A

C

exonic

De novo

nonsynonymous SNV

NM_178425
NM_178423

c.A3092C
c.A3083C

p.Q1031P
p.Q1028P

14.39

-

Yuen2017 G

HDAC9

7-0179-003

chr7:
18208193-18208208

CTGTGTGTGTGTGTGT

CTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

HDAC9

AU3052301

chr7:
18930607-18930607

C

T

intronic

De novo

-

Yuen2017 G

HDAC9

1-0273-004

chr7:
18148600-18148600

C

T

intronic

De novo

-

Yuen2017 G

HDAC9

2-1509-003

chr7:
18822772-18822772

G

A

intronic

De novo

-

Yuen2017 G

HDAC9

AU076808

chr7:
18939668-18939668

C

G

intronic

De novo

-

Yuen2017 G

HDAC9

2-1506-003

chr7:
18547114-18547130

CTATTATTATTATTATT

CTATTATTATTATT

intronic

De novo

-

Yuen2017 G

HDAC9

F9985-1

chr7:
18833005-18833005

C

G

exonic

De novo

nonsynonymous SNV

NM_058176
NM_178425
NM_178423

c.C2243G
c.C2252G
c.C2243G

p.S748C
p.S751C
p.S748C

16.15

-

Fu2022 E
Satterstrom2020 E

HDAC9

1-0571-003

chr7:
18941291-18941291

G

A

intronic

De novo

-

Yuen2017 G

HDAC9

AU2433302

chr7:
19090896-19090896

C

T

intergenic

De novo

-

Yuen2017 G

HDAC9

1-0497-003

chr7:
18998167-18998167

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

5-0095-003

chr7:
18737158-18737165

TCTTCCTT

TCTT

intronic

De novo

-

Yuen2017 G

HDAC9

2-1506-003

chr7:
18740516-18740516

G

A

intronic

De novo

-

Yuen2017 G

HDAC9

2-1315-003

chr7:
18146563-18146563

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

HDAC9

AU4444304

chr7:
19073943-19073943

G

T

intergenic

De novo

-

Yuen2017 G

HDAC9

1-0531-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

HDAC9

AU081104

chr7:
18975476-18975476

C

T

exonic

Unknown

nonsynonymous SNV

NM_058176
NM_178425
NM_178423

c.C2839T
c.C2848T
c.C2839T

p.R947C
p.R950C
p.R947C

26.6

8.283E-6

Stessman2017 T

HDAC9

1-0479-006

chr7:
18456030-18456030

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

3-0392-000

chr7:
18744438-18744438

A

G

intronic

De novo

-

Yuen2016 G

HDAC9

1-0483-003

chr7:
18191687-18191687

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

HDAC9

1-0354-006

chr7:
18670228-18670228

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

74-0352

chr7:
18212149-18212149

C

T

intronic

De novo

-

Michaelson2012 G

HDAC9

2-0289-004

chr7:
18244823-18244823

C

G

intronic

De novo

-

Yuen2017 G

HDAC9

3-0469-000

chr7:
18804407-18804407

G

A

intronic

De novo

-

Yuen2017 G

HDAC9

AU4243302

chr7:
18581683-18581683

T

A

intronic

De novo

-

Yuen2017 G

HDAC9

217-14283-4060

chr7:
18669051-18669052

GG

G

exonic

Unknown

frameshift deletion

NM_001204148
NM_058176
NM_178425
NM_014707
NM_178423

c.651delG
c.735delG
c.744delG
c.735delG
c.735delG

p.R217fs
p.R245fs
p.R248fs
p.R245fs
p.R245fs

-

Stessman2017 T

HDAC9

1-0032-003

chr7:
18758881-18758881

A

ACTTTATGG

intronic

De novo

-

Yuen2017 G

HDAC9

G01_GEA542HI

chr7:
19035566-19035566

C

T

intronic

De novo

-

Fu2022 E

HDAC9

1-0065-005

chr7:
18319425-18319425

A

AACTAGTTTC

intronic

De novo

-

Yuen2017 G

HDAC9

1-0381-003

chr7:
18305983-18305983

T

C

intronic

De novo

-

Yuen2017 G

HDAC9

AU3911302

chr7:
19120473-19120473

G

T

intergenic

De novo

-

Yuen2017 G

HDAC9

2-0307-004

chr7:
18740912-18740912

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

2-1246-003

chr7:
18736366-18736366

C

G

intronic

De novo

-

Yuen2017 G

HDAC9

2-1283-004

chr7:
18610751-18610751

C

T

intronic

De novo

-

Yuen2017 G

HDAC9

AU3645301

chr7:
18588248-18588248

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

1-0455-003

chr7:
18722112-18722112

T

G

intronic

De novo

-

Yuen2017 G

HDAC9

AU4007302

chr7:
18453591-18453591

G

A

intronic

De novo

-

Yuen2017 G

HDAC9

AU1742302

chr7:
18786516-18786516

G

A

intronic

De novo

-

Yuen2017 G

HDAC9

2-1362-003

chr7:
18579602-18579602

C

T

intronic

De novo

-

Yuen2017 G

HDAC9

AU072504

chr7:
19131479-19131479

T

C

intergenic

De novo

-

Yuen2017 G

HDAC9

AU054303

chr7:
18826789-18826789

T

C

intronic

De novo

-

Yuen2017 G

HDAC9

AU1987304

chr7:
18153977-18153977

A

C

intronic

De novo

-

Yuen2017 G

HDAC9

1-0606-003

chr7:
19007243-19007243

C

A

intronic

De novo

-

Yuen2017 G

HDAC9

1-0401-003

chr7:
19102157-19102158

TC

T

intergenic

De novo

-

Yuen2017 G

HDAC9

2-1735-003

chr7:
19089196-19089196

C

A

intergenic

De novo

-

Yuen2017 G

HDAC9

2-1266-003

chr7:
18885284-18885284

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

HDAC9

5-0018-003

chr7:
18187284-18187284

T

TTTTAAGC

intronic

De novo

-

Yuen2017 G

HDAC9

5-0077-004

chr7:
18710595-18710595

T

C

intronic

De novo

-

Yuen2017 G

HDAC9

2-1085-003

chr7:
18408401-18408401

C

A

intronic

De novo

-

Yuen2017 G

HDAC9

1-0141-003

chr7:
18385993-18385993

A

G

intronic

De novo

-

Yuen2017 G

HDAC9

2-1318-004

chr7:
18242224-18242226

GTT

G

intronic

De novo

-

Yuen2017 G

HDAC9

AU1687303

chr7:
18774220-18774220

T

C

intronic

De novo

-

Yuen2017 G

HDAC9

2-1336-003

chr7:
18535985-18535985

G

C

intronic

De novo

-

Yuen2017 G

HDAC9

2-1283-003

chr7:
18610751-18610751

C

T

intronic

De 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 notes	View
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