Variant Results

or

Results for "SOS1"

Variant Events: 38

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

SOS1

1-0590-003

chr2:
39326380-39326380

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOS1

REACH000681

chr2:
39219014-39219014

C

G

intronic

De novo

-

Trost2022 G

SOS1

1-1040-003

chr2:
39210074-39210074

G

C

UTR3

De novo

-

Trost2022 G

SOS1

MSSNG00367-004

chr2:
39232923-39232923

G

C

intronic

De novo

-

Trost2022 G

SOS1

REACH000681

chr2:
39221853-39221853

A

C

intronic

De novo

-

Trost2022 G

SOS1

AU3779302

chr2:
39317845-39317845

C

T

intronic

De novo

-

Yuen2017 G

SOS1

AU4479301

chr2:
39333548-39333548

G

A

intronic

De novo

-

Yuen2017 G

SOS1

2-1085-003

chr2:
39306276-39306277

AA

TC

intronic

De novo

-

Trost2022 G

SOS1

4-0062-003

chr2:
39302124-39302125

TT

AG

intronic

De novo

-

Trost2022 G

SOS1

2-1066-004

chr2:
39314981-39314981

A

G

intronic

De novo

-

Trost2022 G

SOS1

2-1329-003

chr2:
39249972-39249972

C

T

exonic

Inherited

nonsynonymous SNV

NM_005633

c.G1597A

p.E533K

26.8

-

Jiang2013 G

SOS1

2-1066-004

chr2:
39314974-39314976

CAT

TAC

intronic

De novo

-

Trost2022 G

SOS1

MSSNG00404-003

chr2:
39246112-39246112

A

C

intronic

De novo

-

Trost2022 G

SOS1

MSSNG00341-003

chr2:
39234510-39234510

C

T

intronic

De novo

-

Trost2022 G

SOS1

REACH000189

chr2:
39279353-39279353

T

C

intronic

De novo

-

Trost2022 G

SOS1

REACH000724

chr2:
39268059-39268063

ACTGT

A

intronic

De novo

-

Trost2022 G

SOS1

1-0413-003

chr2:
39341736-39341736

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SOS1

mAGRE5195

chr2:
39216456-39216456

C

T

splicing

Paternal

splicing

19.58

1.0E-4

Cirnigliaro2023 G

SOS1

1-0092-004

chr2:
39394209-39394211

CAT

C

intergenic

De novo

-

Yuen2017 G

SOS1

1-1162-003

chr2:
39321926-39321926

G

A

intronic

De novo

-

Trost2022 G

SOS1

mAGRE2691

chr2:
39216456-39216456

C

T

splicing

Paternal

splicing

19.58

1.0E-4

Cirnigliaro2023 G

SOS1

1-0683-004

chr2:
39315100-39315103

CACT

GTGA

intronic

De novo

-

Trost2022 G

SOS1

mAGRE2690

chr2:
39216456-39216456

C

T

splicing

Paternal

splicing

19.58

1.0E-4

Cirnigliaro2023 G

SOS1

AU4211304

chr2:
39236204-39236204

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOS1

4-0100-004

chr2:
39322532-39322532

G

C

intronic

De novo

-

Trost2022 G

SOS1

SP0103946

chr2:
39233586-39233586

T

G

exonic

De novo

synonymous SNV

NM_005633

c.A2758C

p.R920R

-

Fu2022 E

SOS1

SP0013041

chr2:
39249920-39249920

A

G

exonic

De novo

nonsynonymous SNV

NM_005633

c.T1649C

p.L550P

18.89

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SOS1

Hu2022:49

chr2:
39216457-39216457

T

C

splicing

Unknown

splicing

21.4

-

Hu2022 T

SOS1

AU045512

chr2:
39261693-39261693

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOS1

13874.p1

chr2:
39247892-39247892

C

T

intronic

De novo

-

Turner2016 G

SOS1

AU036203

chr2:
39267802-39267802

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOS1

2-0272-004

chr2:
39314837-39314837

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOS1

5-0050-004

chr2:
39315063-39315063

T

G

intronic

De novo

-

Yuen2017 G

SOS1

2-1454-003

chr2:
39302891-39302891

A

G

intronic

De novo

-

Yuen2017 G

SOS1

1-0052-003

chr2:
39314837-39314837

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOS1

iHART2690

chr2:
39216456-39216456

C

T

splicing

Paternal

splicing

19.58

1.0E-4

Ruzzo2019 G

SOS1

iHART2691

chr2:
39216456-39216456

C

T

splicing

Paternal

splicing

19.58

1.0E-4

Ruzzo2019 G

SOS1

1-0978-003

chr2:
39360693-39360697

TCCCC

TCCCCC

intergenic

De novo

-

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
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