Variant Results

or

or

Results for "SOS2"

Variant Events: 20

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

SOS2

AU3371302

chr14:
50695968-50695968

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SOS2

1-0332-003

chr14:
50704378-50704381

ATGT

A

intergenic

De novo

-

Yuen2017 G

SOS2

AU2293301

chr14:
50704978-50704978

C

T

intergenic

De novo

-

-

Yuen2017 G

SOS2

Cukier2014:37425

chr14:
50655380-50655380

C

G

exonic

Unknown

nonsynonymous SNV

NM_006939

c.G549C

p.L183F

10.59

Cukier2014 E

SOS2

Cukier2014:37024

chr14:
50655307-50655307

C

T

exonic

Unknown

nonsynonymous SNV

NM_006939

c.G622A

p.A208T

20.6

Cukier2014 E

SOS2

Cukier2014:37024

chr14:
50655357-50655357

G

C

exonic

Unknown

nonsynonymous SNV

NM_006939

c.C572G

p.P191R

15.96

Cukier2014 E

SOS2

11108.p1

chr14:
50628192-50628192

G

T

intronic

Mosaic

-

-

Dou2017 E

SOS2

AU066104

chr14:
50658389-50658389

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SOS2

PN400124

chr14:
50682137-50682137

C

G

intronic

Inherited

-

Leblond2019 E

SOS2

1-1035-003

chr14:
50690754-50690754

A

C

intronic

De novo

-

-

Trost2022 G

SOS2

MSSNG00162-003

chr14:
50648899-50648899

T

G

intronic

De novo

-

-

Trost2022 G

SOS2

AU2142301

chr14:
50661635-50661635

T

C

intronic

De novo

-

-

Trost2022 G

SOS2

4-0025-003

chr14:
50590535-50590535

A

C

intronic

De novo

-

-

Trost2022 G

SOS2

MR_1408

chr14:
50585201-50585201

G

C

exonic

De novo

nonsynonymous SNV

NM_006939

c.C3860G

p.P1287R

9.529

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SOS2

SP0074540

chr14:
50655227-50655227

C

T

exonic

synonymous SNV

NM_006939

c.G702A

p.L234L

-

Zhou2022 GE

SOS2

3-0113-000

chr14:
50604025-50604025

C

A

intronic

De novo

-

-

Trost2022 G

SOS2

A17

chr14:
50673613-50673613

C

T

intronic

De novo

-

-

Wu2018 G

SOS2

Krgovic2022:023509

chr14:
50649248-50649248

G

T

exonic

De novo

nonsynonymous SNV

NM_006939

c.C791A

p.T264K

31.0

-

Krgovic2022 E

SOS2

1-0007-003

chr14:
50587543-50587543

C

T

intronic

De novo

-

-

Trost2022 G

SOS2

AU047704

chr14:
50584776-50584776

A

C

UTR3

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