Variant Results

or

Results for "CHD9"

Variant Events: 33

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

CHD9

2-1220-003

chr16:
53176285-53176285

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CHD9

80001101950

chr16:
53358656-53358656

G

C

exonic

De novo

nonsynonymous SNV

NM_001308319
NM_025134

c.G8543C
c.G8495C

p.R2848T
p.R2832T

7.953

-

Lim2017 E

CHD9

G01-GEA-63-HI

chr16:
53341704-53341704

A

G

exonic

De novo

nonsynonymous SNV

NM_001308319
NM_025134

c.A6892G
c.A6892G

p.T2298A
p.T2298A

18.63

-

Fu2022 E
Satterstrom2020 E

CHD9

2-1619-003

chr16:
53286012-53286012

A

ATTTGTT

intronic

De novo

-

Yuen2017 G

CHD9

Li2017:19799

chr16:
53269101-53269101

G

A

exonic

Unknown

nonsynonymous SNV

NM_001308319
NM_025134

c.G2516A
c.G2516A

p.R839H
p.R839H

32.0

-

Li2017 T

CHD9

AU015903

chr16:
53092690-53092696

ACCCCCC

ACCCCCCC

intronic

De novo

-

Yuen2017 G

CHD9

SP0037585

chr16:
53262917-53262917

G

A

exonic

De novo

nonsynonymous SNV

NM_001308319
NM_025134

c.G2191A
c.G2191A

p.A731T
p.A731T

34.0

-

Fu2022 E

CHD9

2-1295-003

chr16:
53197419-53197419

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CHD9

AU2458303

chr16:
53150535-53150535

G

A

intronic

De novo

-

Yuen2017 G

CHD9

2-1581-003

chr16:
53153654-53153654

T

A

intronic

De novo

-

Yuen2017 G

CHD9

9007

chr16:
53358640-53358643

AAAG

A

exonic

De novo

nonframeshift deletion

NM_001308319
NM_025134

c.8528_8530del
c.8480_8482del

p.2843_2844del
p.2827_2828del

-

Fu2022 E

CHD9

A31

chr16:
53386307-53386307

C

T

intergenic

De novo

-

Wu2018 G

CHD9

AU2140306

chr16:
53247997-53247997

G

A

intronic

De novo

-

Yuen2017 G

CHD9

2-1619-004

chr16:
53286012-53286012

A

ATTTGTT

intronic

De novo

-

Yuen2017 G

CHD9

14464.p1

chr16:
53263041-53263041

G

C

intronic

De novo

-

Satterstrom2020 E

CHD9

Li2017:20280

chr16:
53191067-53191067

C

T

exonic

Unknown

nonsynonymous SNV

NM_001308319
NM_025134

c.C1066T
c.C1066T

p.P356S
p.P356S

17.27

-

Li2017 T

CHD9

SMHC01850s000

chr16:
53301326-53301326

C

T

exonic

De novo

nonsynonymous SNV

NM_001308319
NM_025134

c.C4441T
c.C4441T

p.R1481W
p.R1481W

20.5

8.299E-6

Yuan2023 E

CHD9

MR_2114

chr16:
53301814-53301814

A

G

intronic

De novo

-

2.525E-5

Satterstrom2020 E

CHD9

DEASD_0263_001

chr16:
53281307-53281307

T

A

exonic

De novo

nonsynonymous SNV

NM_001308319
NM_025134

c.T3557A
c.T3557A

p.L1186H
p.L1186H

26.5

-

Fu2022 E
Satterstrom2020 E

CHD9

Li2017:23104

chr16:
53262999-53262999

A

T

exonic

Unknown

nonsynonymous SNV

NM_001308319
NM_025134

c.A2273T
c.A2273T

p.H758L
p.H758L

15.43

-

Li2017 T

CHD9

Li2017:18428

chr16:
53331032-53331032

C

A

exonic

Unknown

nonsynonymous SNV

NM_001308319
NM_025134

c.C5675A
c.C5675A

p.S1892Y
p.S1892Y

29.6

8.281E-6

Li2017 T

CHD9

AU3649305

chr16:
53301045-53301045

T

A

intronic

De novo

-

Yuen2017 G

CHD9

Li2017:20573

chr16:
53338412-53338412

C

T

exonic

Unknown

nonsynonymous SNV

NM_001308319
NM_025134

c.C6494T
c.C6494T

p.S2165F
p.S2165F

16.53

-

Li2017 T

CHD9

Li2017:16056

chr16:
53269104-53269104

C

T

exonic

Unknown

nonsynonymous SNV

NM_001308319
NM_025134

c.C2519T
c.C2519T

p.P840L
p.P840L

29.6

-

Li2017 T

CHD9

11572.p1

chr16:
53249422-53249422

G

A

intronic

De novo

-

Turner2016 G

CHD9

1-0440-003

chr16:
53399138-53399138

G

T

intergenic

De novo

-

Yuen2017 G

CHD9

5-0146-003

chr16:
53247575-53247575

A

G

intronic

De novo

-

Yuen2017 G

CHD9

AU066404

chr16:
53178638-53178638

A

T

intronic

De novo

-

Yuen2017 G

CHD9

13902.p1

chr16:
53338351-53338351

T

C

exonic

De novo

nonsynonymous SNV

NM_001308319
NM_025134

c.T6433C
c.T6433C

p.S2145P
p.S2145P

15.93

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

CHD9

Li2017:20641

chr16:
53326822-53326822

A

G

exonic

Unknown

nonsynonymous SNV

NM_001308319
NM_025134

c.A5368G
c.A5368G

p.T1790A
p.T1790A

28.9

3.32E-5

Li2017 T

CHD9

SSC10287

chr16:
53338351-53338351

T

C

exonic

De novo

nonsynonymous SNV

NM_001308319
NM_025134

c.T6433C
c.T6433C

p.S2145P
p.S2145P

15.93

-

Fu2022 E
Lim2017 E

CHD9

A5

chr16:
53190039-53190039

A

G

exonic

De novo

nonsynonymous SNV

NM_001308319
NM_025134

c.A38G
c.A38G

p.N13S
p.N13S

10.65

1.0E-4

Wu2018 G

CHD9

2-1591-003

chr16:
53388961-53388961

G

A

intergenic

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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