Variant Results

or

Results for "DNAJC13"

Variant Events: 15

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

DNAJC13

Al-Mubarak2017:ASD-18

chr3:
132235581-132235581

A

G

exonic

Unknown

nonsynonymous SNV

NM_015268

c.A5594G

p.N1865S

20.4

-

Al-Mubarak2017 E

DNAJC13

AU1687303

chr3:
132146206-132146206

C

G

intronic

De novo

-

Yuen2017 G

DNAJC13

AU188A

chr3:
132175637-132175637

C

T

exonic

De novo

nonsynonymous SNV

NM_015268

c.C1310T

p.A437V

35.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

DNAJC13

AU4032307

chr3:
132202036-132202036

G

T

intronic

De novo

-

Yuen2017 G

DNAJC13

14517.p1

chr3:
132247145-132247145

C

T

exonic

De novo

nonsynonymous SNV

NM_015268

c.C6494T

p.A2165V

26.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

DNAJC13

Lim2017:36759

chr3:
132247145-132247145

C

T

exonic

De novo

nonsynonymous SNV

NM_015268

c.C6494T

p.A2165V

26.3

-

Lim2017 E

DNAJC13

36759

chr3:
132247145-132247145

C

T

exonic

De novo

nonsynonymous SNV

NM_015268

c.C6494T

p.A2165V

26.3

-

Fu2022 E

DNAJC13

iHART2029

chr3:
132172496-132172496

T

TC

exonic

Maternal

frameshift insertion

NM_015268

c.799dupC

p.D266fs

-

Ruzzo2019 G

DNAJC13

379-09-111873

chr3:
132203484-132203484

T

C

exonic

De novo

nonsynonymous SNV

NM_015268

c.T3235C

p.S1079P

17.78

-

Fu2022 E
Satterstrom2020 E

DNAJC13

SP0121460

chr3:
132207211-132207211

A

T

exonic

De novo

nonsynonymous SNV

NM_015268

c.A3337T

p.N1113Y

27.7

-

Fu2022 E

DNAJC13

SP0016088

chr3:
132241947-132241947

A

T

intronic

De novo

-

Fu2022 E

DNAJC13

AU1687302

chr3:
132146206-132146206

C

G

intronic

De novo

-

Yuen2017 G

DNAJC13

2-0304-004

chr3:
132213585-132213585

G

T

intronic

De novo

-

Yuen2017 G

DNAJC13

13554.p1

chr3:
132196737-132196737

G

A

splicing

Mosaic

splicing

25.2

-

Dou2017 E

DNAJC13

1-0372-003

chr3:
132177295-132177295

A

G

intronic

De novo

-

Yuen2016 G
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
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