Variant Results

or

or

Results for "DNAJB9"

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

DNAJB9

AU054303

chr7:
108457616-108457616

C

T

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

2-0307-003

chr7:
108325678-108325678

A

AC

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

12667_p1

chr7:
108213622-108213622

T

G

exonic

De novo

nonsynonymous SNV

NM_012328

c.T497G

p.F166C

18.46

-

Fu2022 E

DNAJB9

12667.p1

chr7:
108213622-108213622

T

G

exonic

De novo

nonsynonymous SNV

NM_012328

c.T497G

p.F166C

18.46

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAJB9

2-1529-003

chr7:
108505477-108505477

A

G

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

1-0585-003

chr7:
108512530-108512537

CCTTGCTT

CCTT

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

AU3787302

chr7:
108509597-108509597

A

G

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

AU3885305

chr7:
108332300-108332300

A

G

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

1-0336-003

chr7:
108275832-108275832

C

CTTCTCCT

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

7-0024-003

chr7:
108475548-108475548

G

C

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

12175.p1

chr7:
108320505-108320505

C

T

intergenic

De novo

-

-

Turner2016 G

DNAJB9

1-0546-003

chr7:
108434860-108434860

A

C

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

2-1416-004

chr7:
108264613-108264613

T

TG

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

2-1182-003

chr7:
108437692-108437692

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

DNAJB9

74-0355

chr7:
108405315-108405315

C

T

intergenic

De novo

-

-

Michaelson2012 G

DNAJB9

AU2433302

chr7:
108456958-108456958

T

C

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

74-0352

chr7:
108273387-108273387

T

A

intergenic

De novo

-

-

Michaelson2012 G

DNAJB9

2-1389-003

chr7:
108375067-108375067

T

A

intergenic

De novo

-

-

Yuen2016 G

DNAJB9

AU2950302

chr7:
108349116-108349119

TTTG

T

intergenic

De novo

-

-

Yuen2017 G

DNAJB9

1-0105-003

chr7:
108212062-108212062

G

A

intronic

De novo

-

-

Trost2022 G

DNAJB9

SP0015942

chr7:
108213814-108213814

A

C

UTR3

De novo

-

-

Fu2022 E

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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