Variant Results

or

or

Results for "CHD5"

Variant Events: 21

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

CHD5

SP0058507

chr1:
6184629-6184629

G

T

exonic

De novo

nonsynonymous SNV

NM_015557

c.C4487A

p.S1496Y

33.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CHD5

Wang2023:386

chr1:
6184614-6184614

A

C

exonic

De novo

nonsynonymous SNV

NM_015557

c.T4502G

p.L1501R

35.0

-

Wang2023 E

CHD5

SP0013622

chr1:
6202265-6202265

G

A

exonic

De novo

nonsynonymous SNV

NM_015557

c.C2359T

p.R787C

22.1

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CHD5

mAGRE2831

chr1:
6166453-6166453

A

G

splicing

Maternal

splicing

21.9

-

Cirnigliaro2023 G

CHD5

2-1355-003

chr1:
6235028-6235028

A

G

intronic

De novo

-

-

Yuen2017 G

CHD5

2-1581-003

chr1:
6175086-6175086

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CHD5

7-0465-003

chr1:
6221369-6221369

G

A

intronic

De novo

-

-

Trost2022 G

CHD5

SP0057997

chr1:
6214718-6214718

A

G

splicing

De novo

splicing

12.33

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CHD5

DEASD_0125_001

chr1:
6191718-6191718

G

A

exonic

De novo

nonsynonymous SNV

NM_015557

c.C3235T

p.R1079W

15.44

-

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

CHD5

2-1140-003

chr1:
6204581-6204581

C

A

intronic

De novo

-

-

Yuen2017 G

CHD5

JASD_Fam0207

chr1:
6202253-6202253

G

T

exonic

De novo

synonymous SNV

NM_015557

c.C2371A

p.R791R

-

-

Takata2018 E

CHD5

AU3881301

chr1:
6197993-6197993

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CHD5

iHART2831

chr1:
6166453-6166453

A

G

splicing

Maternal

splicing

21.9

-

Ruzzo2019 G

CHD5

SP0055716

chr1:
6209254-6209254

G

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

CHD5

5-0114-003

chr1:
6177782-6177782

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CHD5

SP0007336

chr1:
6166734-6166734

G

A

exonic

De novo

nonsynonymous SNV

NM_015557

c.C5684T

p.S1895L

35.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CHD5

SP0111520

chr1:
6214809-6214809

G

A

exonic

De novo

nonsynonymous SNV

NM_015557

c.C656T

p.T219M

11.07

Fu2022 E
Trost2022 G
Zhou2022 GE

CHD5

SP0127515

chr1:
6170077-6170077

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

CHD5

AU0039303

chr1:
6242091-6242091

T

C

intergenic

De novo

-

-

Yuen2017 G

CHD5

SP0012812

chr1:
6166751-6166751

G

A

exonic

De novo

synonymous SNV

NM_015557

c.C5667T

p.A1889A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CHD5

3-0740-000A

chr1:
6169989-6169989

G

A

exonic

De novo

nonsynonymous SNV

NM_015557

c.C5444T

p.T1815M

22.7

Trost2022 G
Zhou2022 GE

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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