Variant Results

or

Results for "SH3PXD2A"

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

SH3PXD2A

AU0636303

chr10:
105477344-105477344

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

5-0040-003

chr10:
105413602-105413602

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

DEASD_0339_001

chr10:
105363080-105363080

G

C

exonic

De novo

nonsynonymous SNV

NM_014631

c.C1811G

p.T604S

0.403

-

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

SH3PXD2A

12228.p1

chr10:
105495554-105495554

A

G

exonic

De novo

nonsynonymous SNV

NM_014631

c.T242C

p.F81S

17.81

-

Ji2016 E
Krumm2015 E

SH3PXD2A

1-0269-003

chr10:
105490355-105490355

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

5-0018-003

chr10:
105434666-105434666

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

1-0344-003

chr10:
105426484-105426484

C

T

intronic

De novo

-

Yuen2017 G

SH3PXD2A

1-0329-003

chr10:
105413148-105413148

T

TATTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

1-0565-004

chr10:
105479036-105479036

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

7-0161-003

chr10:
105377237-105377237

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

2-1246-003

chr10:
105534447-105534447

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

1-0507-003

chr10:
105573065-105573065

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SH3PXD2A

1-0285-003

chr10:
105423362-105423362

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

7-0357-003

chr10:
105454667-105454667

C

G

intronic

De novo

-

Trost2022 G

SH3PXD2A

SSC07028

chr10:
105495476-105495476

A

AG

intronic

De novo

-

Trost2022 G

SH3PXD2A

SP0084554

chr10:
105421555-105421555

C

T

intronic

De novo

-

Trost2022 G

SH3PXD2A

7-0485-003

chr10:
105444241-105444241

C

T

intronic

De novo

-

Trost2022 G

SH3PXD2A

1-1015-003A

chr10:
105391452-105391452

A

G

intronic

De novo

-

Trost2022 G

SH3PXD2A

2-1659-003

chr10:
105412281-105412281

G

GCCA

intronic

De novo

-

Trost2022 G

SH3PXD2A

1-0669-003

chr10:
105483438-105483438

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

MSSNG00256-004

chr10:
105356022-105356022

G

A

UTR3

De novo

-

Trost2022 G

SH3PXD2A

13322.p1

chr10:
105495476-105495476

A

AG

intronic

De novo

-

Satterstrom2020 E

SH3PXD2A

SP0118178

chr10:
105361800-105361800

G

T

exonic

De novo

nonsynonymous SNV

NM_014631

c.C3091A

p.R1031S

16.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SH3PXD2A

MT_165.3

chr10:
105384787-105384787

A

C

intronic

De novo

-

Trost2022 G

SH3PXD2A

1-0079-008

chr10:
105413148-105413148

T

TATTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

MSSNG00421-004

chr10:
105528126-105528126

G

A

intronic

De novo

-

Trost2022 G

SH3PXD2A

1-0329-004

chr10:
105413148-105413148

T

TATTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

AU4343302

chr10:
105531725-105531725

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SH3PXD2A

7-0309-003

chr10:
105580157-105580157

C

T

intronic

De novo

-

Trost2022 G

SH3PXD2A

2-0012-003

chr10:
105515936-105515941

GATGGA

TGAGC

intronic

De novo

-

Trost2022 G

SH3PXD2A

MSSNG00109-003

chr10:
105527943-105527943

G

A

intronic

De novo

-

Trost2022 G

SH3PXD2A

AU3605304

chr10:
105426001-105426001

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 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
	More