Variant Results

or

Results for "CHD1"

Variant Events: 35

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

CHD1

PN400132

chr5:
98228403-98228403

T

A

exonic

Unknown

nonsynonymous SNV

NM_001270

c.A2006T

p.E669V

24.1

0.0083

Leblond2019 E

CHD1

PN400455

chr5:
98228403-98228403

T

A

exonic

Unknown

nonsynonymous SNV

NM_001270

c.A2006T

p.E669V

24.1

0.0083

Leblond2019 E

CHD1

Stessman2017:ASD_1168

chr5:
98217827-98217827

C

A

exonic

Unknown

nonsynonymous SNV

NM_001270

c.G2719T

p.V907L

29.5

-

Stessman2017 T

CHD1

PN400230

chr5:
98228403-98228403

T

A

exonic

Unknown

nonsynonymous SNV

NM_001270

c.A2006T

p.E669V

24.1

0.0083

Leblond2019 E

CHD1

PN400579

chr5:
98228403-98228403

T

A

exonic

Unknown

nonsynonymous SNV

NM_001270

c.A2006T

p.E669V

24.1

0.0083

Leblond2019 E

CHD1

7-0462-004

chr5:
98256196-98256196

T

C

intronic

De novo

-

Trost2022 G

CHD1

5-5023-003

chr5:
98258366-98258366

T

C

intronic

De novo

-

Trost2022 G

CHD1

10C105228

chr5:
98216794-98216794

G

C

exonic

De novo

nonsynonymous SNV

NM_001270

c.C3046G

p.L1016V

23.8

-

DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CHD1

08C79232

chr5:
98235279-98235279

G

A

exonic

De novo

synonymous SNV

NM_001270

c.C990T

p.N330N

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CHD1

11664.p1

chr5:
98233929-98233929

T

G

intronic

De novo

-

Satterstrom2020 E

CHD1

AU2951303

chr5:
98242264-98242264

G

A

intronic

De novo

-

Yuen2017 G

CHD1

AU2951302

chr5:
98242264-98242264

G

A

intronic

De novo

-

Yuen2017 G

CHD1

1-0175-004

chr5:
98203478-98203478

T

C

intronic

De novo

-

Yuen2017 G

CHD1

PN400486

chr5:
98228403-98228403

T

A

exonic

Unknown

nonsynonymous SNV

NM_001270

c.A2006T

p.E669V

24.1

0.0083

Leblond2019 E

CHD1

215-13004-0053

chr5:
98208223-98208223

C

T

exonic

De novo

nonsynonymous SNV

NM_001270

c.G3608A

p.R1203Q

33.0

-

O’Roak2014 T

CHD1

PN400231

chr5:
98228403-98228403

T

A

exonic

Inherited, Unknown

nonsynonymous SNV

NM_001270

c.A2006T

p.E669V

24.1

0.0083

Leblond2019 E
Leblond2019 E

CHD1

07C65183

chr5:
98212154-98212154

G

A

exonic

Unknown

nonsynonymous SNV

NM_001270

c.C3346T

p.R1116W

17.49

-

Stessman2017 T

CHD1

2-1736-003

chr5:
98241545-98241545

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHD1

SP0126622

chr5:
98192148-98192148

G

T

exonic

De novo

nonsynonymous SNV

NM_001270

c.C5069A

p.P1690Q

19.19

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CHD1

14559.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001270
NM_001270

c.4550dupT
c.4549dupT

p.L1517fs
p.L1517fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CHD1

AU4467302

chr5:
98220434-98220434

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHD1

Mahjani2021:15

chr5:
98228252-98228252

A

T

exonic

nonsynonymous SNV

NM_001270

c.T2157A

p.S719R

19.46

-

Mahjani2021 E

CHD1

14028.p1

chr5:
98239610-98239610

A

G

exonic

De novo

synonymous SNV

NM_001270

c.T258C

p.F86F

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CHD1

PN400582

chr5:
98228403-98228403

T

A

exonic

Unknown

nonsynonymous SNV

NM_001270

c.A2006T

p.E669V

24.1

0.0083

Leblond2019 E

CHD1

14028_p1

chr5:
98239610-98239610

A

G

exonic

De novo

synonymous SNV

NM_001270

c.T258C

p.F86F

-

Fu2022 E

CHD1

7-0365-004

chr5:
98232339-98232339

G

C

intronic

De novo

-

Trost2022 G

CHD1

SSC12093

chr5:
98194693-98194693

C

CA

exonic

frameshift insertion

NM_001270

c.4550dupT

p.L1517fs

-

Antaki2022 GE

CHD1

14559_p1

chr5:
98194693-98194693

C

CA

exonic

De novo

frameshift insertion

NM_001270

c.4550dupT

p.L1517fs

-

Fu2022 E

CHD1

70237

chr5:
98233929-98233929

T

G

intronic

De novo

-

Trost2022 G

CHD1

MSSNG00358-003

chr5:
98228109-98228109

C

T

intronic

De novo

-

Trost2022 G

CHD1

7-0444-003

chr5:
98229883-98229883

A

T

intronic

De novo

-

Trost2022 G

CHD1

3-0419-000

chr5:
98212788-98212788

G

C

intronic

De novo

-

Trost2022 G

CHD1

3-0176-000

chr5:
98217504-98217504

G

A

intronic

De novo

-

Trost2022 G

CHD1

08C74195

chr5:
98218952-98218952

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CHD1

7-0446-003

chr5:
98204543-98204543

A

C

intronic

De novo

-

Trost2022 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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