Variant Results

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or

Results for "PPIP5K2"

Variant Events: 19

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

PPIP5K2

IGM3989

chr5:
102502898-102502898

A

G

exonic

De novo

nonsynonymous SNV

NM_015216
NM_001276277

c.A1936G
c.A1936G

p.S646G
p.S646G

23.2

-

Fu2022 E

PPIP5K2

DEASD_0177_001

chr5:
102469367-102469367

G

T

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

PPIP5K2

5-0066-003

chr5:
102498826-102498826

A

T

intronic

De novo

-

-

Trost2022 G

PPIP5K2

AU2320301

chr5:
102508221-102508221

T

G

intronic

De novo

-

-

Trost2022 G

PPIP5K2

12785.p1

chr5:
102486980-102486980

G

C

exonic

De novo

nonsynonymous SNV

NM_015216
NM_001276277

c.G930C
c.G930C

p.L310F
p.L310F

16.74

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

PPIP5K2

03HI2710A

chr5:
102537217-102537217

A

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PPIP5K2

SSC05971

chr5:
102486980-102486980

G

C

exonic

De novo

nonsynonymous SNV

NM_015216
NM_001276277

c.G930C
c.G930C

p.L310F
p.L310F

16.74

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

PPIP5K2

2-0304-004

chr5:
102547757-102547757

T

G

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

PPIP5K2

Cukier2014:37674

chr5:
102537298-102537298

C

T

exonic

Unknown

nonsynonymous SNV

NM_015216
NM_001276277

c.C3632T
c.C3695T

p.T1211M
p.T1232M

10.14

Cukier2014 E

PPIP5K2

AU2023302

chr5:
102459294-102459294

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPIP5K2

3-0708-000

chr5:
102461694-102461694

A

G

intronic

De novo

-

-

Trost2022 G

PPIP5K2

2-0310-004

chr5:
102490118-102490118

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PPIP5K2

AU4092302

chr5:
102480766-102480766

G

GA

intronic

De novo

-

-

Trost2022 G

PPIP5K2

iHART1536

chr5:
102518947-102518948

CT

C

exonic

Unknown

frameshift deletion

NM_015216
NM_001276277

c.2936delT
c.2936delT

p.L979fs
p.L979fs

-

-

Ruzzo2019 G

PPIP5K2

3-0326-000

chr5:
102460227-102460227

T

C

intronic

De novo

-

-

Trost2022 G

PPIP5K2

MSSNG00422-003

chr5:
102461526-102461526

G

A

intronic

De novo

-

-

Trost2022 G

PPIP5K2

AU072505

chr5:
102578340-102578340

C

T

intergenic

De novo

-

-

Yuen2017 G

PPIP5K2

mAGRE1536

chr5:
102518947-102518948

CT

C

exonic

Unknown

frameshift deletion

NM_015216
NM_001276277

c.2936delT
c.2936delT

p.L979fs
p.L979fs

-

-

Cirnigliaro2023 G

PPIP5K2

mAGRE4760

chr5:
102490451-102490451

C

T

splicing

Paternal

splicing

12.82

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
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