Variant Results

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Results for "RAF1"

Variant Events: 16

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

RAF1

2-1508-003

chr3:
12698758-12698758

A

AAAGT

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RAF1

7-0288-004

chr3:
12640255-12640255

A

C

intronic

De novo

-

-

Trost2022 G

RAF1

AU4191302

chr3:
12677156-12677160

AAAAG

A

intronic

De novo

-

-

Trost2022 G

RAF1

AU3849302

chr3:
12742142-12742142

A

G

intergenic

De novo

-

-

Yuen2017 G

RAF1

B203603

chr3:
12647746-12647746

A

G

exonic

De novo

synonymous SNV

NM_002880

c.T634C

p.L212L

-

-

Fu2022 E

RAF1

2-0144-003

chr3:
12627298-12627298

T

C

exonic

De novo

nonsynonymous SNV

NM_002880

c.A1418G

p.N473S

17.78

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

RAF1

MSSNG00329-004

chr3:
12688772-12688772

G

A

intronic

De novo

-

-

Trost2022 G

RAF1

7-0095-004

chr3:
12751828-12751828

G

T

intergenic

De novo

-

-

Yuen2017 G

RAF1

1-0633-003

chr3:
12693120-12693120

C

T

intronic

De novo

-

-

Trost2022 G

RAF1

L7T2M_01

chr3:
12686624-12686624

G

A

intronic

De novo

-

-

Trost2022 G

RAF1

SP0046788

chr3:
12632318-12632318

C

T

exonic

De novo

nonsynonymous SNV

NM_002880

c.G1349A

p.R450Q

35.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

RAF1

MSSNG00008-004

chr3:
12688182-12688182

T

C

intronic

De novo

-

-

Trost2022 G

RAF1

DEASD_0035_001

chr3:
12626791-12626791

C

T

intronic

De novo

-

-

Kosmicki2017 E

RAF1

AU4306302

chr3:
12709615-12709615

C

T

intergenic

De novo

-

-

Yuen2017 G

RAF1

13608.p1

chr3:
12628988-12629003

GATATCCCCTGGCACC

G

intronic

De novo

-

-

Dong2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

RAF1

7-0219-003

chr3:
12731227-12731227

G

C

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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