Variant Results

or

Results for "RAI1"

Variant Events: 31

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

RAI1

2-1093-005

chr17:
17623930-17623930

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAI1

SP0176016

chr17:
17707069-17707069

G

C

splicing

De novo

splicing

12.8

-

Trost2022 G
Zhou2022 GE

RAI1

AU054304

chr17:
17691451-17691451

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAI1

SP0195693

chr17:
17700603-17700603

G

GA

exonic

frameshift insertion

NM_030665

c.4342dupA

p.R1447fs

-

Zhou2022 GE

RAI1

SP0200526

chr17:
17699140-17699141

CG

C

exonic

frameshift deletion

NM_030665

c.2879delG

p.R960fs

-

Zhou2022 GE

RAI1

1-0303-003

chr17:
17586227-17586227

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAI1

09C92779

chr17:
17696670-17696671

AG

A

exonic

De novo

frameshift deletion

NM_030665

c.409delG

p.G137fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RAI1

SP0012243

chr17:
17700972-17700972

C

T

exonic

De novo

synonymous SNV

NM_030665

c.C4710T

p.P1570P

-

1.654E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

RAI1

1-1128-003

chr17:
17613979-17613980

AG

A

intronic

De novo

-

Trost2022 G

RAI1

2-1725-003

chr17:
17688693-17688695

AGT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAI1

AU4273304

chr17:
17641483-17641483

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAI1

SP0081029

chr17:
17699911-17699911

C

T

exonic

De novo

nonsynonymous SNV

NM_030665

c.C3649T

p.R1217W

11.79

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RAI1

2-0142-003

chr17:
17622057-17622057

A

AACTG

intronic

De novo

-

Trost2022 G

RAI1

D’Gama2015:4671

chr17:
17700661-17700661

C

T

exonic

Unknown

nonsynonymous SNV

NM_030665

c.C4399T

p.P1467S

12.16

-

D’Gama2015 T

RAI1

1-0225-003

chr17:
17626388-17626388

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAI1

SP0056427

chr17:
17712691-17712691

T

G

intronic

De novo

-

Fu2022 E

RAI1

12703.p1

chr17:
17699836-17699837

AG

A

exonic

De novo

frameshift deletion

NM_030665

c.3575delG

p.S1192fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

RAI1

Wang2023:659

chr17:
17699527-17699527

C

T

exonic

De novo

stopgain

NM_030665

c.C3265T

p.R1089X

43.0

-

Wang2023 E

RAI1

AU133A

chr17:
17697926-17697926

C

T

exonic

De novo

nonsynonymous SNV

NM_030665

c.C1664T

p.T555I

15.34

-

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

RAI1

NDAR_INVGW026YKM_wes1

chr17:
17698609-17698609

G

A

exonic

De novo

nonsynonymous SNV

NM_030665

c.G2347A

p.D783N

3.738

-

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

RAI1

MSSNG00344-003

chr17:
17673442-17673442

C

T

intronic

De novo

-

Trost2022 G

RAI1

2-1433-004

chr17:
17679958-17679958

C

G

intronic

De novo

-

Trost2022 G

RAI1

2-0142-003

chr17:
17622060-17622061

TG

AA

intronic

De novo

-

Trost2022 G

RAI1

MSSNG00255-005

chr17:
17672579-17672579

C

T

intronic

De novo

-

Trost2022 G

RAI1

Krgovic2022:035820

chr17:
17698115-17698116

TC

T

exonic

De novo

frameshift deletion

NM_030665

c.1854delC

p.I618fs

-

Krgovic2022 E

RAI1

SP0033688

chr17:
17700940-17700940

C

T

exonic

De novo

stopgain

NM_030665

c.C4678T

p.R1560X

45.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

RAI1

SSC06117

chr17:
17699836-17699837

AG

A

exonic

frameshift deletion

NM_030665

c.3575delG

p.S1192fs

-

Antaki2022 GE

RAI1

1-0402-004

chr17:
17628575-17628575

C

CG

intronic

De novo

-

Yuen2017 G

RAI1

AU076705

chr17:
17588960-17588960

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RAI1

12703_p1

chr17:
17699836-17699837

AG

A

exonic

De novo

frameshift deletion

NM_030665

c.3575delG

p.S1192fs

-

Fu2022 E

RAI1

Wang2023:544

chr17:
17699527-17699527

C

T

exonic

De novo

stopgain

NM_030665

c.C3265T

p.R1089X

43.0

-

Wang2023 E

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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