Variant Results

or

Results for "INPP4A"

Variant Events: 32

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

INPP4A

1-1165-003

chr2:
99203780-99203780

C

A

intronic

De novo

-

Trost2022 G

INPP4A

2-0112-005

chr2:
99197614-99197614

A

G

intronic

De novo

-

Trost2022 G

INPP4A

1-0616-003

chr2:
99201078-99201078

G

A

intronic

De novo

-

Trost2022 G

INPP4A

AU3913302

chr2:
99112906-99112906

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

AU3858303

chr2:
99160848-99160848

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

1-0213-004

chr2:
99108909-99108909

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

7-0100-003

chr2:
99144093-99144093

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

1-1103-003

chr2:
99181181-99181181

A

G

exonic

De novo

nonsynonymous SNV

NM_001134225
NM_001134224
NM_001566
NM_004027

c.A2107G
c.A2122G
c.A2005G
c.A2005G

p.T703A
p.T708A
p.T669A
p.T669A

25.2

-

Trost2022 G
Zhou2022 GE

INPP4A

SP0074866

chr2:
99180121-99180121

G

A

intronic

De novo

-

1.0E-4

Fu2022 E
Trost2022 G

INPP4A

SP0099494

chr2:
99155371-99155371

T

G

exonic

De novo

nonsynonymous SNV

NM_001134224
NM_001134225
NM_001566
NM_004027

c.T597G
c.T597G
c.T597G
c.T597G

p.D199E
p.D199E
p.D199E
p.D199E

10.58

-

Fu2022 E

INPP4A

1-0381-003

chr2:
99211025-99211025

A

G

intergenic

De novo

-

Yuen2017 G

INPP4A

AU2100302

chr2:
99094997-99094997

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

AU4013301

chr2:
99126463-99126463

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

1-0460-003

chr2:
99109629-99109629

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

1-0460-003

chr2:
99107959-99107959

A

T

intronic

De novo

-

Yuen2017 G

INPP4A

AU128A

chr2:
99163073-99163073

T

C

exonic

De novo

nonsynonymous SNV

NM_001134224
NM_001134225
NM_001566
NM_004027

c.T1079C
c.T1079C
c.T1079C
c.T1079C

p.I360T
p.I360T
p.I360T
p.I360T

15.16

8.297E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

INPP4A

1-0460-003

chr2:
99107616-99107616

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

2-1315-003

chr2:
99143344-99143344

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

INPP4A

1-0213-003

chr2:
99108909-99108909

C

T

intronic

De novo

-

Yuen2016 G

INPP4A

7-0254-004

chr2:
99074456-99074456

T

G

intronic

De novo

-

Trost2022 G

INPP4A

2-1290-003

chr2:
99112515-99112515

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

A31

chr2:
99124609-99124609

G

A

intronic

De novo

-

Wu2018 G

INPP4A

2-0102-004

chr2:
99133537-99133537

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

MSSNG00021-003

chr2:
99166292-99166292

A

AG

intronic

De novo

-

Trost2022 G

INPP4A

2-0007-003

chr2:
99060434-99060434

G

C

upstream

De novo

-

Trost2022 G
Yuen2017 G

INPP4A

2-1765-003

chr2:
99194721-99194721

C

A

intronic

De novo

-

Trost2022 G

INPP4A

2-1796-003

chr2:
99094410-99094410

T

C

intronic

De novo

-

Trost2022 G

INPP4A

MSSNG00028-003

chr2:
99137888-99137888

C

T

intronic

De novo

-

Trost2022 G

INPP4A

1-1010-003

chr2:
99094092-99094096

CTCTT

C

intronic

De novo

-

Trost2022 G

INPP4A

2-1796-003

chr2:
99094393-99094393

A

T

intronic

De novo

-

Trost2022 G

INPP4A

MSSNG00168-003

chr2:
99078225-99078225

T

A

intronic

De novo

-

Trost2022 G

INPP4A

MSSNG00396-003

chr2:
99091571-99091571

G

A

intronic

De novo

-

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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