Variant Results

or

Results for "RIC1"

Variant Events: 25

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

RIC1

12661.p1

chr9:
5763642-5763642

A

C

exonic

De novo

nonsynonymous SNV

NM_001206557
NM_001135920
NM_020829

c.A2504C
c.A2615C
c.A2615C

p.E835A
p.E872A
p.E872A

18.95

5.767E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

RIC1

13638.p1

chr9:
5769178-5769178

A

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001206557
NM_001135920
NM_020829

c.A3235G
c.A3346G
c.A3346G

p.K1079E
p.K1116E
p.K1116E

11.67

8.25E-6

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

RIC1

14397.p1

chr9:
5780380-5780380

G

C

intergenic

De novo

-

Werling2018 G

RIC1

AU2035302

chr9:
5746979-5746979

C

T

intronic

De novo

-

Yuen2017 G

RIC1

7-0394-003

chr9:
5766788-5766788

G

A

intronic

De novo

-

Trost2022 G

RIC1

SP0096815

chr9:
5763803-5763803

T

G

exonic

nonsynonymous SNV

NM_001206557
NM_001135920
NM_020829

c.T2665G
c.T2776G
c.T2776G

p.L889V
p.L926V
p.L926V

17.62

-

Zhou2022 GE

RIC1

MSSNG00344-004

chr9:
5661815-5661815

C

T

intronic

De novo

-

Trost2022 G

RIC1

1-1179-003

chr9:
5724639-5724639

G

C

intronic

De novo

-

Trost2022 G

RIC1

5-5186-003

chr9:
5651529-5651529

G

A

intronic

De novo

-

Trost2022 G

RIC1

1-0402-004

chr9:
5661426-5661426

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIC1

B5X9C-01

chr9:
5651714-5651714

C

A

intronic

De novo

-

Trost2022 G

RIC1

1-0695-004

chr9:
5632576-5632576

C

G

intronic

De novo

-

Trost2022 G

RIC1

4-0026-003

chr9:
5649508-5649508

G

T

intronic

De novo

-

Trost2022 G

RIC1

SP0075627

chr9:
5713971-5713971

G

C

exonic

De novo

nonsynonymous SNV

NM_001135920
NM_001206557
NM_020829

c.G408C
c.G408C
c.G408C

p.R136S
p.R136S
p.R136S

13.99

-

Fu2022 E

RIC1

AU034903

chr9:
5701729-5701729

A

C

intronic

De novo

-

Yuen2017 G

RIC1

AU030703

chr9:
5686522-5686522

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIC1

SP0041858

chr9:
5763278-5763278

C

T

exonic

De novo

nonsynonymous SNV

NM_001206557
NM_001135920
NM_020829

c.C2140T
c.C2251T
c.C2251T

p.P714S
p.P751S
p.P751S

25.3

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

RIC1

13638_p1

chr9:
5769178-5769178

A

G

exonic

De novo

nonsynonymous SNV

NM_001206557
NM_001135920
NM_020829

c.A3235G
c.A3346G
c.A3346G

p.K1079E
p.K1116E
p.K1116E

11.67

8.25E-6

Fu2022 E

RIC1

SSC05058

chr9:
5763642-5763642

A

C

exonic

De novo

nonsynonymous SNV

NM_001206557
NM_001135920
NM_020829

c.A2504C
c.A2615C
c.A2615C

p.E835A
p.E872A
p.E872A

18.95

5.767E-5

Fu2022 E
Trost2022 G

RIC1

AU2035301

chr9:
5746979-5746979

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIC1

12369.p1

chr9:
5762533-5762533

A

C

intronic

Mosaic

-

0.4043

Dou2017 E

RIC1

AU1987304

chr9:
5657562-5657562

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIC1

13104.p1

chr9:
5710475-5710475

G

T

intronic

De novo

-

Wilfert2021 G

RIC1

AU3888302

chr9:
5709027-5709027

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIC1

AU2123302

chr9:
5757005-5757005

T

C

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
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