Variant Results

or

Results for "PITPNM2"

Variant Events: 29

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

PITPNM2

AU1448303

chr12:
123504271-123504273

AAG

A

intronic

De novo

-

Trost2022 G

PITPNM2

1-0158-012

chr12:
123638429-123638451

CTTAATGAAAGGAGTTTTCTTAT

C

intergenic

De novo

-

Yuen2017 G

PITPNM2

1-0654-003

chr12:
123561973-123561973

C

T

intronic

De novo

-

Trost2022 G

PITPNM2

SSC05812

chr12:
123494628-123494628

T

TG

intronic

De novo

-

Trost2022 G

PITPNM2

12729.p1

chr12:
123494628-123494628

T

TG

intronic

De novo

-

Satterstrom2020 E

PITPNM2

7-0322-003

chr12:
123495052-123495052

C

A

intronic

De novo

-

Trost2022 G

PITPNM2

7-0438-003

chr12:
123473542-123473543

TG

T

intronic

De novo

-

Trost2022 G

PITPNM2

3-0090-001

chr12:
123475269-123475269

A

AGGGACCAGAGCAT

intronic

De novo

-

0.0043

Trost2022 G

PITPNM2

Wang2023:117

chr12:
123489885-123489885

G

A

exonic

De novo

nonsynonymous SNV

NM_001300801
NM_020845

c.C854T
c.C854T

p.P285L
p.P285L

14.66

1.649E-5

Wang2023 E

PITPNM2

2-1750-003

chr12:
123583791-123583791

A

AT

intronic

De novo

-

Trost2022 G

PITPNM2

1-1213-003

chr12:
123639172-123639172

T

C

intergenic

De novo

-

Trost2022 G

PITPNM2

1792-23269

chr12:
123480051-123480051

C

T

exonic

Inherited

nonsynonymous SNV

NM_001300801
NM_020845

c.G1939A
c.G1939A

p.D647N
p.D647N

34.0

-

Callaghan2019 G

PITPNM2

21762-34808

chr12:
123519119-123519119

G

A

exonic

Inherited

nonsynonymous SNV

NM_001300801
NM_020845

c.C19T
c.C19T

p.R7W
p.R7W

26.8

-

Callaghan2019 G

PITPNM2

1-0262-004A

chr12:
123579252-123579252

C

G

intronic

De novo

-

Trost2022 G

PITPNM2

5-0074-003

chr12:
123539820-123539820

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PITPNM2

AC640_101

chr12:
123489035-123489035

C

T

exonic

De novo

synonymous SNV

NM_001300801
NM_020845

c.G954A
c.G954A

p.A318A
p.A318A

-

8.573E-6

Fu2022 E

PITPNM2

SP0021714

chr12:
123472801-123472801

G

A

exonic

De novo

nonsynonymous SNV

NM_001300801
NM_020845

c.C2959T
c.C2977T

p.R987W
p.R993W

22.3

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

PITPNM2

3-0448-000

chr12:
123601441-123601441

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PITPNM2

ASDFI_1120

chr12:
123470840-123470840

G

A

exonic

De novo

nonsynonymous SNV

NM_001300801
NM_020845

c.C3766T
c.C3784T

p.R1256W
p.R1262W

15.41

2.476E-5

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

PITPNM2

AC640.101

chr12:
123489035-123489035

C

T

exonic

De novo

synonymous SNV

NM_001300801
NM_020845

c.G954A
c.G954A

p.A318A
p.A318A

-

8.573E-6

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Zhou2022 GE

PITPNM2

2-1164-003

chr12:
123496461-123496461

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PITPNM2

14409_p1

chr12:
123470973-123470973

G

A

intronic

De novo

-

1.0E-4

Fu2022 E

PITPNM2

12011.p1

chr12:
123557659-123557659

C

T

intronic

De novo

-

Turner2016 G

PITPNM2

14409.p1

chr12:
123470973-123470973

G

A

intronic

De novo

-

1.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

PITPNM2

SP0046378

chr12:
123472726-123472726

G

A

intronic

De novo

-

Fu2022 E

PITPNM2

SP0068632

chr12:
123474433-123474433

C

G

exonic

De novo

nonsynonymous SNV

NM_020845

c.G2632C

p.A878P

2.547

-

Fu2022 E

PITPNM2

SP0035799

chr12:
123472315-123472315

A

C

intronic

De novo

-

0.0019

Fu2022 E

PITPNM2

AU3586303

chr12:
123627844-123627844

A

C

intergenic

De novo

-

Yuen2017 G

PITPNM2

SP0129875

chr12:
123519008-123519008

C

A

intronic

De novo

-

Fu2022 E

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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