Variant Results

or

Results for "CHD7"

Variant Events: 47

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

CHD7

SP0102165

chr8:
61773562-61773562

C

T

exonic

De novo

nonsynonymous SNV

NM_017780

c.C7708T

p.P2570S

15.86

8.282E-6

Fu2022 E

CHD7

More2023:19

chr8:
61707624-61707624

G

T

exonic

Inherited

nonsynonymous SNV

NM_017780

c.G2176T

p.D726Y

24.4

1.66E-5

More2023 G

CHD7

SP0124074

chr8:
61742998-61742998

C

G

exonic

De novo

nonsynonymous SNV

NM_017780

c.C3640G

p.Q1214E

27.5

-

Fu2022 E

CHD7

Disecmas_129P

chr8:
61654835-61654835

C

T

exonic

De novo

stopgain

NM_001316690
NM_017780

c.C844T
c.C844T

p.Q282X
p.Q282X

40.0

-

Fu2022 E

CHD7

SP0040884

chr8:
61778190-61778190

A

G

exonic

De novo

nonsynonymous SNV

NM_001316690
NM_017780

c.A2545G
c.A8692G

p.M849V
p.M2898V

6.409

1.666E-5

Fu2022 E

CHD7

SP0028894

chr8:
61777824-61777824

C

T

exonic

De novo

nonsynonymous SNV

NM_001316690
NM_017780

c.C2179T
c.C8326T

p.P727S
p.P2776S

29.8

1.103E-5

Fu2022 E

CHD7

AU2433302

chr8:
61822776-61822776

C

G

intergenic

De novo

-

Yuen2017 G

CHD7

GX0364.p1

chr8:
61769032-61769032

G

A

exonic

Paternal

nonsynonymous SNV

NM_017780

c.G7193A

p.R2398H

34.0

2.867E-5

Guo2018 T

CHD7

1-0269-003

chr8:
61804512-61804512

A

G

intergenic

De novo

-

Yuen2017 G

CHD7

2-0028-003

chr8:
61676122-61676122

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CHD7

SP0106388

chr8:
61757622-61757622

G

A

exonic

De novo

nonsynonymous SNV

NM_017780

c.G5050A

p.G1684S

28.8

-

Fu2022 E

CHD7

1-0520-003

chr8:
61850984-61850984

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHD7

AU4235303

chr8:
61642684-61642684

T

A

intronic

De novo

-

Yuen2017 G

CHD7

13704.p1

chr8:
61777890-61777891

CT

C

exonic

Maternal

frameshift deletion

NM_001316690
NM_017780

c.2246delT
c.8393delT

p.L749fs
p.L2798fs

-

O’Roak2012a T

CHD7

13733.p1

chr8:
61735090-61735090

G

A

exonic

De novo

nonsynonymous SNV

NM_017780

c.G2986A

p.G996S

33.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G

CHD7

14023.p1

chr8:
61778440-61778440

T

TA

exonic

Paternal

frameshift insertion

NM_001316690
NM_017780

c.2796dupA
c.8943dupA

p.L932fs
p.L2981fs

-

O’Roak2012a T

CHD7

A1338B

chr8:
61749449-61749449

C

G

exonic

De novo

nonsynonymous SNV

NM_017780

c.C4063G

p.P1355A

25.6

-

Fu2022 E

CHD7

SP0037048

chr8:
61732663-61732663

A

C

intronic

De novo

-

Fu2022 E

CHD7

4916

chr8:
61735090-61735090

G

A

exonic

De novo

nonsynonymous SNV

NM_017780

c.G2986A

p.G996S

33.0

-

Fu2022 E

CHD7

SP0121865

chr8:
61655635-61655635

G

A

exonic

De novo

synonymous SNV

NM_001316690
NM_017780

c.G1644A
c.G1644A

p.P548P
p.P548P

-

2.618E-5

Fu2022 E

CHD7

1-0180-004

chr8:
61852490-61852490

A

G

intergenic

De novo

-

Yuen2017 G

CHD7

2-1138-003

chr8:
61784250-61784250

G

C

intergenic

De novo

-

Yuen2017 G

CHD7

SP0006667

chr8:
61655254-61655254

A

G

exonic

De novo

synonymous SNV

NM_001316690
NM_017780

c.A1263G
c.A1263G

p.P421P
p.P421P

-

2.499E-5

Feliciano2019 E
Fu2022 E

CHD7

1-0558-003

chr8:
61726302-61726302

C

G

intronic

De novo

-

Yuen2017 G

CHD7

1-0142-005

chr8:
61645915-61645915

A

G

intronic

De novo

-

Yuen2017 G

CHD7

2-1407-003

chr8:
61837775-61837775

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CHD7

1-0358-003

chr8:
61865409-61865409

C

A

intergenic

De novo

-

Yuen2017 G

CHD7

M27795

chr8:
61750797-61750797

G

A

exonic

Paternal

nonsynonymous SNV

NM_017780

c.G4516A

p.G1506S

34.0

6.64E-5

Wang2016 T

CHD7

2-1272-003

chr8:
61742924-61742924

G

A

exonic

Inherited

nonsynonymous SNV

NM_017780

c.G3566A

p.R1189H

33.0

-

Jiang2013 G

CHD7

AU009805

chr8:
61781818-61781818

T

C

intergenic

De novo

-

Yuen2017 G

CHD7

M31977

chr8:
61769341-61769341

C

A

exonic

Unknown

nonsynonymous SNV

NM_017780

c.C7502A

p.S2501Y

31.0

-

Guo2018 T

CHD7

1-0246-005

chr8:
61811010-61811010

G

A

intergenic

De novo

-

Yuen2017 G

CHD7

JASD_Fam0001

chr8:
61774804-61774804

G

A

exonic

De novo

nonsynonymous SNV

NM_001316690
NM_017780

c.G1733A
c.G7880A

p.R578Q
p.R2627Q

36.0

-

Takata2018 E

CHD7

1-0209-003

chr8:
61769255-61769265

ACCAGTGTCTG

A

exonic

De novo

frameshift deletion

NM_017780

c.7417_7426del

p.P2473fs

-

Yuen2017 G

CHD7

Lim2017:4916

chr8:
61735090-61735090

G

A

exonic

De novo

nonsynonymous SNV

NM_017780

c.G2986A

p.G996S

33.0

-

Lim2017 E

CHD7

2-1207-003

chr8:
61691913-61691913

A

G

intronic

De novo

-

Yuen2017 G

CHD7

Yalcintepe2021:12

chr8:
61654404-61654404

T

C

exonic

nonsynonymous SNV

NM_001316690
NM_017780

c.T413C
c.T413C

p.F138S
p.F138S

13.98

-

Yalcintepe2021 T

CHD7

211-5569-3

chr8:
61742924-61742924

G

A

exonic

Inherited

nonsynonymous SNV

NM_017780

c.G3566A

p.R1189H

33.0

-

Stessman2017 T

CHD7

1-0079-008

chr8:
61823454-61823454

T

TC

intergenic

De novo

-

Yuen2017 G

CHD7

AU006804

chr8:
61748401-61748401

G

A

intronic

De novo

-

Yuen2017 G

CHD7

AU2835301

chr8:
61765088-61765088

C

T

exonic

Unknown

nonsynonymous SNV

NM_017780

c.C5926T

p.R1976C

27.4

-

Stessman2017 T

CHD7

M21675

chr8:
61750797-61750797

G

A

exonic

Maternal

nonsynonymous SNV

NM_017780

c.G4516A

p.G1506S

34.0

6.64E-5

Wang2016 T

CHD7

U5B9H

chr8:
61748841-61748841

C

T

exonic

Unknown

nonsynonymous SNV

NM_017780

c.C3988T

p.R1330W

22.0

1.0E-4

Stessman2017 T

CHD7

08C73987

chr8:
61768504-61768504

A

C

intronic

De novo

-

Satterstrom2020 E

CHD7

Yalcintepe2021:13

chr8:
61655415-61655415

T

A

exonic

nonsynonymous SNV

NM_001316690
NM_017780

c.T1424A
c.T1424A

p.M475K
p.M475K

17.35

-

Yalcintepe2021 T

CHD7

U3Q8V

chr8:
61655553-61655553

C

T

exonic

Unknown

nonsynonymous SNV

NM_001316690
NM_017780

c.C1562T
c.C1562T

p.P521L
p.P521L

23.6

2.533E-5

Stessman2017 T

CHD7

Hu2022:70

chr8:
61654295-61654295

C

T

exonic

Paternal

nonsynonymous SNV

NM_001316690
NM_017780

c.C304T
c.C304T

p.H102Y
p.H102Y

15.41

-

Hu2022 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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