Variant Results

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Results for "DNAJC17"

Variant Events: 14

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

DNAJC17

1-1105-005

chr15:
41084525-41084525

C

G

intronic

De novo

-

-

Trost2022 G

DNAJC17

MT_54.3

chr15:
41087525-41087525

T

C

intronic

De novo

-

-

Trost2022 G

DNAJC17

1-0285-003

chr15:
41087615-41087615

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DNAJC17

MSSNG00343-003

chr15:
41079695-41079695

C

T

intronic

De novo

-

-

Trost2022 G

DNAJC17

SP0118536

chr15:
41067191-41067191

T

G

intronic

De novo

-

-

Fu2022 E

DNAJC17

MSSNG00026-003

chr15:
41095758-41095758

T

C

intronic

De novo

-

-

Trost2022 G

DNAJC17

3-0742-000

chr15:
41092518-41092518

G

A

intronic

De novo

-

-

Trost2022 G

DNAJC17

3-0847-000

chr15:
41094524-41094524

C

T

intronic

De novo

-

-

Trost2022 G

DNAJC17

iHART1571

chr15:
41060234-41060234

G

T

exonic

Paternal

stopgain

NM_018163

c.C819A

p.Y273X

10.11

-

Ruzzo2019 G

DNAJC17

mAGRE1571

chr15:
41060234-41060234

G

T

exonic

Paternal

stopgain

NM_018163

c.C819A

p.Y273X

10.11

-

Cirnigliaro2023 G

DNAJC17

EGAN00001101241

chr15:
41068785-41068785

A

C

exonic

De novo

nonsynonymous SNV

NM_018163

c.T336G

p.S112R

12.63

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAJC17

80001101626

chr15:
41060155-41060155

C

G

exonic

De novo

nonsynonymous SNV

NM_018163

c.G898C

p.E300Q

13.53

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAJC17

SP0019673

chr15:
41065877-41065877

A

C

intronic

De novo

-

-

Fu2022 E

DNAJC17

AU045512

chr15:
41083611-41083611

A

G

intronic

De novo

-

-

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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