Variant Results

or

or

Results for "PITPNM3"

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

PITPNM3

SP0011921

chr17:
6387090-6387090

T

G

intronic

De novo

-

-

Trost2022 G

PITPNM3

SP0077905

chr17:
6387090-6387090

T

G

intronic

De novo

-

-

Trost2022 G

PITPNM3

MSSNG00069-003

chr17:
6376078-6376078

C

T

exonic

De novo

nonsynonymous SNV

NM_001165966
NM_031220

c.G1220A
c.G1328A

p.R407Q
p.R443Q

34.0

-

Trost2022 G
Zhou2022 GE

PITPNM3

SP0124556

chr17:
6377742-6377742

C

A

intronic

De novo

-

-

Trost2022 G

PITPNM3

SP0004261

chr17:
6387090-6387090

T

G

intronic

De novo

-

-

Trost2022 G

PITPNM3

11120.p1

chr17:
6371601-6371601

T

C

exonic

De novo

nonsynonymous SNV

NM_001165966
NM_031220

c.A1726G
c.A1834G

p.S576G
p.S612G

10.79

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PITPNM3

AU074403

chr17:
6414508-6414508

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PITPNM3

MSSNG00341-004

chr17:
6412682-6412682

C

T

intronic

De novo

-

-

Trost2022 G

PITPNM3

MSSNG00094-003

chr17:
6450885-6450885

G

A

intronic

De novo

-

-

Trost2022 G

PITPNM3

SP0078245

chr17:
6387090-6387090

T

G

intronic

De novo

-

-

Trost2022 G

PITPNM3

3-0432-000

chr17:
6402939-6402939

A

C

intronic

De novo

-

-

Trost2022 G

PITPNM3

6585

chr17:
6371601-6371601

T

C

exonic

De novo

nonsynonymous SNV

NM_001165966
NM_031220

c.A1726G
c.A1834G

p.S576G
p.S612G

10.79

-

Fu2022 E

PITPNM3

2-1278-003

chr17:
6369194-6369194

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

PITPNM3

AU2792302

chr17:
6376638-6376638

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PITPNM3

SP0040275

chr17:
6373603-6373603

C

T

exonic

De novo

nonsynonymous SNV

NM_001165966
NM_031220

c.G1642A
c.G1750A

p.V548M
p.V584M

22.2

Fu2022 E
Trost2022 G
Zhou2022 GE

PITPNM3

1000478998840005-C

chr17:
6382011-6382011

C

T

exonic

De novo

synonymous SNV

NM_001165966
NM_031220

c.G525A
c.G633A

p.Q175Q
p.Q211Q

-

-

Fu2022 E

PITPNM3

SP0043389

chr17:
6371686-6371686

C

T

intronic

De novo

-

Fu2022 E

PITPNM3

1-0339-003

chr17:
6374501-6374501

G

A

exonic

De novo

nonsynonymous SNV

NM_001165966
NM_031220

c.C1496T
c.C1604T

p.A499V
p.A535V

10.35

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

PITPNM3

SP0046952

chr17:
6367493-6367493

A

G

exonic

De novo

nonsynonymous SNV

NM_001165966
NM_031220

c.T2045C
c.T2153C

p.V682A
p.V718A

22.0

-

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

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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