Variant Results

or

or

Results for "INPP5D"

Variant Events: 28

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

INPP5D

1-0354-003

chr2:
233992841-233992841

C

CAT

intronic

De novo

-

-

Yuen2017 G

INPP5D

AU3839303

chr2:
233983140-233983140

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

INPP5D

1-0433-003

chr2:
234085313-234085313

G

GTGAA

intronic

De novo

-

-

Yuen2017 G

INPP5D

AU3692301

chr2:
234148918-234148918

A

T

intergenic

De novo

-

-

Yuen2017 G

INPP5D

2-0002-005

chr2:
233977074-233977074

G

A

intronic

De novo

-

-

Yuen2017 G

INPP5D

AU4197302

chr2:
234069025-234069025

G

A

intronic

De novo

-

-

Yuen2017 G

INPP5D

1-0604-003

chr2:
234106401-234106401

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

INPP5D

SP0088192

chr2:
234078791-234078791

G

A

exonic

De novo

unknown

23.3

-

Fu2022 E
Trost2022 G
Zhou2022 GE

INPP5D

1-0834-003

chr2:
233973763-233973763

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

INPP5D

SP0075404

chr2:
234073038-234073038

A

G

exonic

De novo

unknown

11.03

-

Fu2022 E
Trost2022 G
Zhou2022 GE

INPP5D

2-1164-003

chr2:
234108177-234108177

G

A

intronic

De novo

-

-

Yuen2017 G

INPP5D

SP0137304

chr2:
234113170-234113170

C

G

exonic

De novo

unknown

16.97

-

Fu2022 E
Trost2022 G
Zhou2022 GE

INPP5D

SP0085920

chr2:
234078687-234078687

T

C

exonic

De novo

unknown

-

Fu2022 E
Trost2022 G
Zhou2022 GE

INPP5D

SP0063467

chr2:
234106852-234106879

TGACCAGCAGCCCACAGCCTGGAGCTAC

T

exonic

unknown

-

-

Zhou2022 GE

INPP5D

SP0051062

chr2:
234078012-234078012

C

G

exonic

unknown

20.3

-

Zhou2022 GE

INPP5D

AU056604

chr2:
234157847-234157847

C

T

intergenic

De novo

-

-

Yuen2017 G

INPP5D

1-0383-003

chr2:
234140969-234140969

G

C

intergenic

De novo

-

-

Yuen2017 G

INPP5D

MSSNG00364-004

chr2:
234056014-234056014

C

A

intronic

De novo

-

-

Trost2022 G

INPP5D

5-1009-003

chr2:
234089624-234089624

G

A

intronic

De novo

-

-

Trost2022 G

INPP5D

AU3885304

chr2:
233960495-233960495

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

INPP5D

15542-26229

chr2:
234091082-234091082

G

T

exonic

Inherited

unknown

24.3

-

Callaghan2019 G

INPP5D

3-0466-000A

chr2:
233976496-233976496

C

T

intronic

De novo

-

-

Trost2022 G

INPP5D

AU0780301

chr2:
234105851-234105851

G

A

intronic

De novo

-

-

Yuen2017 G

INPP5D

11506.p1

chr2:
234072500-234072500

A

G

exonic

De novo

unknown

17.24

-

Ji2016 E
Krumm2015 E

INPP5D

5-0041-003

chr2:
233929753-233929753

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

INPP5D

1-0775-003

chr2:
234093367-234093367

T

C

intronic

De novo

-

-

Trost2022 G

INPP5D

1-0092-003

chr2:
233952582-233952591

CCTTGGTCAA

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

INPP5D

SP0232986

chr2:
234113126-234113126

C

G

exonic

De novo

unknown

-

-

Trost2022 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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