Variant Results

or

Results for "CHD3"

Variant Events: 18

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

CHD3

G01-GEA-76-HI

chr17:
7797451-7797451

G

A

exonic

De novo

nonsynonymous SNV

NM_001005271
NM_001005273
NM_005852

c.G1120A
c.G943A
c.G943A

p.E374K
p.E315K
p.E315K

14.02

2.481E-5

Fu2022 E
Lim2017 E
Satterstrom2020 E

CHD3

2-1511-003

chr17:
7801856-7801871

TAAGAAGAAGAAGAAG

TAAGAAGAAGAAG

exonic

De novo

nonframeshift deletion

NM_001005271
NM_001005273
NM_005852

c.2284_2286del
c.2107_2109del
c.2107_2109del

p.762_762del
p.703_703del
p.703_703del

-

Yuen2017 G

CHD3

5-0077-004

chr17:
7806567-7806567

G

A

intronic

De novo

-

1.679E-5

Yuen2017 G

CHD3

SSC05373

chr17:
7812028-7812028

C

T

exonic

nonsynonymous SNV

NM_005852
NM_001005271
NM_001005273

c.C5173T
c.C5452T
c.C5275T

p.R1725W
p.R1818W
p.R1759W

17.3

-

Antaki2022 GE

CHD3

6302

chr17:
7812028-7812028

C

T

exonic

De novo

nonsynonymous SNV

NM_005852
NM_001005271
NM_001005273

c.C5173T
c.C5452T
c.C5275T

p.R1725W
p.R1818W
p.R1759W

17.3

-

Fu2022 E

CHD3

iHART2931

chr17:
7806007-7806007

C

T

exonic

De novo

nonsynonymous SNV

NM_001005271
NM_001005273
NM_005852

c.C3509T
c.C3332T
c.C3332T

p.T1170M
p.T1111M
p.T1111M

17.15

-

Ruzzo2019 G

CHD3

SP0000124

chr17:
7798772-7798772

G

A

exonic

De novo

nonsynonymous SNV

NM_001005271
NM_001005273
NM_005852

c.G1796A
c.G1619A
c.G1619A

p.R599H
p.R540H
p.R540H

14.2

3.295E-5

Feliciano2019 E
Fu2022 E

CHD3

1-1000-003

chr17:
7788731-7788748

GGGAGGAGGAGGAGGAGG

GGGAGGAGGAGGAGG

intronic

De novo

-

Yuen2017 G

CHD3

12630.p1

chr17:
7812028-7812028

C

T

exonic

De novo

nonsynonymous SNV

NM_005852
NM_001005271
NM_001005273

c.C5173T
c.C5452T
c.C5275T

p.R1725W
p.R1818W
p.R1759W

17.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

CHD3

SP0027448

chr17:
7809304-7809308

TTAAG

T

exonic

De novo

nonframeshift deletion

NM_001005271
NM_001005273
NM_005852

c.4533_4535del
c.4356_4358del
c.4356_4358del

p.1511_1512del
p.1452_1453del
p.1452_1453del

-

Feliciano2019 E
Fu2022 E

CHD3

SP0091005

chr17:
7806475-7806475

T

G

intronic

De novo

-

Fu2022 E

CHD3

SP0077788

chr17:
7802464-7802464

A

T

exonic

De novo

nonsynonymous SNV

NM_001005271
NM_001005273
NM_005852

c.A2464T
c.A2287T
c.A2287T

p.M822L
p.M763L
p.M763L

14.44

-

Fu2022 E

CHD3

DEASD_0257_001

chr17:
7811315-7811315

T

C

exonic

De novo

synonymous SNV

NM_005852
NM_001005271
NM_001005273

c.T5028C
c.T5307C
c.T5130C

p.N1676N
p.N1769N
p.N1710N

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CHD3

2-1154-003

chr17:
7803650-7803650

C

G

exonic

De novo

nonsynonymous SNV

NM_001005271
NM_001005273
NM_005852

c.C2902G
c.C2725G
c.C2725G

p.L968V
p.L909V
p.L909V

12.28

-

Yuen2016 G
Yuen2017 G

CHD3

SP0016344

chr17:
7806608-7806608

C

T

exonic

De novo

nonsynonymous SNV

NM_001005271
NM_001005273
NM_005852

c.C3691T
c.C3514T
c.C3514T

p.R1231W
p.R1172W
p.R1172W

20.5

-

Antaki2022 GE
Fu2022 E

CHD3

13322.p1

chr17:
7803837-7803837

C

CT

intronic

De novo

-

Satterstrom2020 E

CHD3

SP0024057

chr17:
7804025-7804025

G

A

exonic

De novo

nonsynonymous SNV

NM_001005271
NM_001005273
NM_005852

c.G3131A
c.G2954A
c.G2954A

p.R1044Q
p.R985Q
p.R985Q

19.34

-

Antaki2022 GE
Fu2022 E

CHD3

M03573

chr17:
7814871-7814871

C

T

exonic

Unknown

stopgain

NM_005852
NM_001005271
NM_001005273

c.C5869T
c.C6148T
c.C5971T

p.R1957X
p.R2050X
p.R1991X

44.0

-

Guo2018 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
	More