Variant Results

or

Results for "DNAJB6"

Variant Events: 29

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

DNAJB6

7-0024-005

chr7:
157176560-157176561

TT

AA

intronic

De novo

-

Trost2022 G

DNAJB6

AU050403

chr7:
157242364-157242364

T

C

intergenic

De novo

-

Yuen2017 G

DNAJB6

5-1009-003

chr7:
157176560-157176562

TTT

AATG

intronic

De novo

-

Trost2022 G

DNAJB6

3-0708-000

chr7:
157176560-157176561

TT

AA

intronic

De novo

-

Trost2022 G

DNAJB6

1-0206-005

chr7:
157154423-157154425

CTA

C

intronic

De novo

-

Yuen2017 G

DNAJB6

PN400523

chr7:
157151331-157151331

C

T

exonic

Unknown

nonsynonymous SNV

NM_005494
NM_058246

c.C65T
c.C65T

p.A22V
p.A22V

36.0

8.246E-6

Leblond2019 E

DNAJB6

REACH000194

chr7:
157204264-157204264

A

T

intronic

De novo

-

Trost2022 G

DNAJB6

PN400253

chr7:
157151331-157151331

C

T

exonic

Unknown

nonsynonymous SNV

NM_005494
NM_058246

c.C65T
c.C65T

p.A22V
p.A22V

36.0

8.246E-6

Leblond2019 E

DNAJB6

7-0365-003

chr7:
157207298-157207298

C

T

intronic

De novo

-

Trost2022 G

DNAJB6

1-1120-003

chr7:
157196028-157196032

TTGTC

T

intronic

De novo

-

Trost2022 G

DNAJB6

7-0256-003

chr7:
157195059-157195059

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJB6

MT_172.3

chr7:
157203896-157203896

G

T

intronic

De novo

-

Trost2022 G

DNAJB6

SJD_23.3

chr7:
157181567-157181567

T

G

intronic

De novo

-

Trost2022 G

DNAJB6

2-1376-003

chr7:
157193010-157193010

G

A

intronic

De novo

-

Trost2022 G

DNAJB6

1-0041-003

chr7:
157229355-157229370

CTGTGTGTGTGTGTGT

CTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

DNAJB6

AU3371302

chr7:
157210981-157210981

G

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

DNAJB6

14217.p1

chr7:
157177678-157177678

A

G

exonic

De novo

nonsynonymous SNV

NM_005494
NM_058246

c.A596G
c.A596G

p.N199S
p.N199S

14.93

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAJB6

mAGRE5313

chr7:
157202641-157202641

G

T

exonic

Maternal

stopgain

NM_058246

c.G844T

p.E282X

21.3

-

Cirnigliaro2023 G

DNAJB6

1-0609-003

chr7:
157228933-157228933

G

A

intergenic

De novo

-

Yuen2017 G

DNAJB6

14217_p1

chr7:
157177678-157177678

A

G

exonic

De novo

nonsynonymous SNV

NM_005494
NM_058246

c.A596G
c.A596G

p.N199S
p.N199S

14.93

-

Fu2022 E

DNAJB6

2-1407-003

chr7:
157257816-157257816

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DNAJB6

7-0166-003

chr7:
157139331-157139331

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJB6

2-0270-004

chr7:
157192974-157192974

C

T

intronic

De novo

-

Yuen2017 G

DNAJB6

2-0278-003

chr7:
157153049-157153050

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJB6

1-0486-003

chr7:
157256887-157256887

G

A

intergenic

De novo

-

Yuen2017 G

DNAJB6

PN400179

chr7:
157151331-157151331

C

T

exonic

Unknown

nonsynonymous SNV

NM_005494
NM_058246

c.C65T
c.C65T

p.A22V
p.A22V

36.0

8.246E-6

Leblond2019 E

DNAJB6

1-0120-003

chr7:
157235711-157235711

T

G

intergenic

De novo

-

Yuen2017 G

DNAJB6

5-0103-003

chr7:
157139337-157139337

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJB6

2-1736-003

chr7:
157146711-157146711

G

C

intronic

De novo

-

Trost2022 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
Curation notes	View
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