Variant Results

or

Results for "INPP5F"

Variant Events: 27

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

INPP5F

3-0186-000

chr10:
121579002-121579002

C

G

exonic

De novo

nonsynonymous SNV

NM_001243194

c.C7G

p.H3D

13.96

-

Tammimies2015 E

INPP5F

AU004403

chr10:
121496257-121496257

C

A

intronic

De novo

-

Trost2022 G

INPP5F

iHART1416

chr10:
121564897-121564897

C

T

exonic

Paternal

stopgain

NM_014937

c.C1243T

p.R415X

39.0

4.971E-5

Ruzzo2019 G

INPP5F

2-0289-004

chr10:
121545196-121545196

C

A

intronic

De novo

-

Trost2022 G

INPP5F

7-0353-003

chr10:
121565081-121565081

G

A

intronic

De novo

-

Trost2022 G

INPP5F

14642.p1

chr10:
121525297-121525297

A

G

intronic

De novo

-

Turner2016 G

INPP5F

iHART2576

chr10:
121582675-121582675

C

T

exonic

Maternal

stopgain

NM_001243194
NM_014937

c.C295T
c.C2125T

p.R99X
p.R709X

38.0

-

Ruzzo2019 G

INPP5F

MSSNG00134-003

chr10:
121540826-121540826

T

G

intronic

De novo

-

Trost2022 G

INPP5F

13964.p1

chr10:
121588215-121588215

T

C

UTR3

De novo

-

Turner2016 G

INPP5F

iHART2578

chr10:
121582675-121582675

C

T

exonic

Maternal

stopgain

NM_001243194
NM_014937

c.C295T
c.C2125T

p.R99X
p.R709X

38.0

-

Ruzzo2019 G

INPP5F

SP0032180

chr10:
121485775-121485775

A

G

exonic

De novo

nonsynonymous SNV

NM_001243195
NM_014937

c.A1G
c.A1G

p.M1V
p.M1V

22.9

5.819E-5

Fu2022 E
Zhou2022 GE

INPP5F

1-1206-003

chr10:
121544533-121544533

T

G

intronic

De novo

-

Trost2022 G

INPP5F

7-0266-003

chr10:
121505957-121505957

G

A

intronic

De novo

-

Trost2022 G

INPP5F

GEA364

chr10:
121551497-121551497

C

T

exonic

De novo

synonymous SNV

NM_001243195
NM_014937

c.C561T
c.C561T

p.S187S
p.S187S

-

Fu2022 E

INPP5F

4-0008-003

chr10:
121524547-121524547

C

T

intronic

De novo

-

Trost2022 G

INPP5F

3-0183-000

chr10:
121496486-121496486

C

T

intronic

De novo

-

Trost2022 G

INPP5F

5-5071-003

chr10:
121497806-121497806

T

TC

intronic

De novo

-

Trost2022 G

INPP5F

3-0180-000

chr10:
121579002-121579002

C

G

exonic

nonsynonymous SNV

NM_001243194

c.C7G

p.H3D

13.96

-

Zhou2022 GE

INPP5F

AU4479301

chr10:
121564063-121564063

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

INPP5F

SP0032181

chr10:
121485775-121485775

A

G

exonic

nonsynonymous SNV

NM_001243195
NM_014937

c.A1G
c.A1G

p.M1V
p.M1V

22.9

5.819E-5

Zhou2022 GE

INPP5F

iHART3123

chr10:
121586240-121586241

TC

T

exonic

Paternal

frameshift deletion

NM_001243194
NM_014937

c.518delC
c.2348delC

p.S173fs
p.S783fs

-

Ruzzo2019 G

INPP5F

SP0233970

chr10:
121567572-121567572

G

T

exonic

De novo

nonsynonymous SNV

NM_014937

c.G1569T

p.K523N

23.0

-

Trost2022 G

INPP5F

mAGRE2576

chr10:
121582675-121582675

C

T

exonic

Maternal

stopgain

NM_001243194
NM_014937

c.C295T
c.C2125T

p.R99X
p.R709X

38.0

-

Cirnigliaro2023 G

INPP5F

mAGRE1416

chr10:
121564897-121564897

C

T

exonic

Paternal

stopgain

NM_014937

c.C1243T

p.R415X

39.0

4.971E-5

Cirnigliaro2023 G

INPP5F

mAGRE5568

chr10:
121563782-121563783

AC

A

exonic

Maternal

stopgain

NM_014937

c.1215delC

p.Y405X

-

Cirnigliaro2023 G

INPP5F

mAGRE3123

chr10:
121586240-121586241

TC

T

exonic

Paternal

frameshift deletion

NM_001243194
NM_014937

c.518delC
c.2348delC

p.S173fs
p.S783fs

-

Cirnigliaro2023 G

INPP5F

mAGRE2578

chr10:
121582675-121582675

C

T

exonic

Maternal

stopgain

NM_001243194
NM_014937

c.C295T
c.C2125T

p.R99X
p.R709X

38.0

-

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
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