Variant Results

or

or

Results for "JDP2"

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

JDP2

2-1425-003

chr14:
75911114-75911114

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

JDP2

SP0067248

chr14:
75904549-75904549

C

T

intronic

De novo

-

-

Fu2022 E

JDP2

1-0806-003

chr14:
75977598-75977598

T

C

intergenic

De novo

-

-

Yuen2017 G

JDP2

MSSNG00127-004

chr14:
75937215-75937215

G

A

UTR3

De novo

-

-

Trost2022 G

JDP2

AU057405

chr14:
75939088-75939088

G

A

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

JDP2

AU3343301

chr14:
75933052-75933052

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

JDP2

AU3730301

chr14:
75957358-75957358

T

C

intergenic

De novo

-

-

Yuen2017 G

JDP2

1-1055-003

chr14:
75939935-75939935

G

A

downstream

De novo

-

-

Trost2022 G

JDP2

MSSNG00414-003

chr14:
75930796-75930796

C

T

intronic

De novo

-

-

Trost2022 G

JDP2

2-1205-003

chr14:
75929757-75929757

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

JDP2

iHART1220

chr14:
75904733-75904734

AC

A

exonic

Paternal

stopgain

NM_001135047
NM_001135048
NM_001135049
NM_130469

c.111delC
c.111delC
c.144delC
c.111delC

p.Y37X
p.Y37X
p.Y48X
p.Y37X

-

-

Ruzzo2019 G

JDP2

3B335

chr14:
75936063-75936063

A

G

exonic

De novo

nonsynonymous SNV

NM_001135047
NM_001135048
NM_001135049
NM_130469

c.A377G
c.A377G
c.A410G
c.A377G

p.Q126R
p.Q126R
p.Q137R
p.Q126R

20.2

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

JDP2

3-0284-000

chr14:
75937170-75937170

C

T

UTR3

De novo

-

-

Trost2022 G

JDP2

MSSNG00220-003

chr14:
75893579-75893579

T

C

upstream

De novo

-

-

Trost2022 G

JDP2

mAGRE1220

chr14:
75904733-75904734

AC

A

exonic

Paternal

stopgain

NM_001135047
NM_001135048
NM_001135049
NM_130469

c.111delC
c.111delC
c.144delC
c.111delC

p.Y37X
p.Y37X
p.Y48X
p.Y37X

-

-

Cirnigliaro2023 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
	More