Variant Results

or

Results for "RB1CC1"

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

RB1CC1

Li2017:17618

chr8:
53571523-53571523

C

T

exonic

Unknown

nonsynonymous SNV

NM_001083617
NM_014781

c.G1703A
c.G1703A

p.R568Q
p.R568Q

34.0

8.477E-6

Li2017 T

RB1CC1

2-1702-003

chr8:
53585645-53585651

GTGCTAT

G

intronic

De novo

-

Yuen2017 G

RB1CC1

A26

chr8:
53590613-53590613

C

G

intronic

De novo

-

Wu2018 G

RB1CC1

Li2017:17643

chr8:
53573725-53573725

A

C

exonic

Unknown

nonsynonymous SNV

NM_001083617
NM_014781

c.T1475G
c.T1475G

p.V492G
p.V492G

15.45

-

Li2017 T

RB1CC1

AU2035302

chr8:
53553666-53553666

G

A

intronic

De novo

-

Yuen2017 G

RB1CC1

07C71059

chr8:
53580644-53580644

G

A

exonic

De novo

synonymous SNV

NM_001083617
NM_014781

c.C1110T
c.C1110T

p.Y370Y
p.Y370Y

-

1.649E-5

Fu2022 E
Satterstrom2020 E

RB1CC1

Li2017:21837

chr8:
53573716-53573716

A

C

exonic

Unknown

nonsynonymous SNV

NM_001083617
NM_014781

c.T1484G
c.T1484G

p.M495R
p.M495R

16.99

8.243E-6

Li2017 T

RB1CC1

AU062204

chr8:
53539061-53539061

A

G

intronic

De novo

-

Yuen2017 G

RB1CC1

2-1297-003

chr8:
53634813-53634813

A

G

intergenic

De novo

-

Yuen2017 G

RB1CC1

AU061003

chr8:
53750269-53750269

C

T

intergenic

De novo

-

Yuen2017 G

RB1CC1

AU2792301

chr8:
53827984-53827984

G

A

intergenic

De novo

-

Yuen2017 G

RB1CC1

13504.p1

chr8:
53536476-53536476

T

A

intronic

Mosaic

-

Dou2017 E

RB1CC1

2-1456-003

chr8:
53573917-53573921

AACTT

A

intronic

De novo

-

Yuen2017 G

RB1CC1

AU2035301

chr8:
53553666-53553666

G

A

intronic

De novo

-

Yuen2017 G

RB1CC1

AU3997301

chr8:
53674852-53674852

T

A

intergenic

De novo

-

Yuen2017 G

RB1CC1

14153.p1

chr8:
53764529-53764529

G

A

intergenic

De novo

-

Turner2016 G

RB1CC1

AU056804

chr8:
53665700-53665700

T

C

intergenic

De novo

-

Yuen2017 G

RB1CC1

AU2293302

chr8:
53801337-53801337

C

T

intergenic

De novo

-

Yuen2017 G

RB1CC1

2-1702-004

chr8:
53585645-53585651

GTGCTAT

G

intronic

De novo

-

Yuen2017 G

RB1CC1

2-0286-003

chr8:
53740991-53740996

TTACTC

T

intergenic

De novo

-

Yuen2017 G

RB1CC1

AU027506

chr8:
53806048-53806048

G

C

intergenic

De novo

-

Yuen2017 G

RB1CC1

1-0345-003

chr8:
53740991-53740996

TTACTC

T

intergenic

De novo

-

Yuen2017 G

RB1CC1

2-1730-003

chr8:
53537292-53537293

GT

GTT

exonic

De novo

stopgain

NM_001083617
NM_014781

c.4682dupA
c.4691dupA

p.Y1561_C1562delinsX
p.Y1564_C1565delinsX

-

Yuen2017 G

RB1CC1

Li2017:19675

chr8:
53573690-53573690

C

A

exonic

Unknown

nonsynonymous SNV

NM_001083617
NM_014781

c.G1510T
c.G1510T

p.V504L
p.V504L

19.4

-

Li2017 T

RB1CC1

Li2017:19705

chr8:
53596215-53596215

G

C

exonic

Unknown

nonsynonymous SNV

NM_001083617
NM_014781

c.C263G
c.C263G

p.P88R
p.P88R

26.3

-

Li2017 T

RB1CC1

2-0286-004

chr8:
53740991-53740996

TTACTC

T

intergenic

De novo

-

Yuen2017 G

RB1CC1

SP0004092

chr8:
53596251-53596251

T

C

exonic

De novo

nonsynonymous SNV

NM_001083617
NM_014781

c.A227G
c.A227G

p.K76R
p.K76R

29.5

-

Fu2022 E

RB1CC1

AU065304

chr8:
53799808-53799808

A

T

intergenic

De novo

-

Yuen2017 G

RB1CC1

AU3984302

chr8:
53826654-53826654

T

A

intergenic

De novo

-

Yuen2017 G

RB1CC1

AU3811305

chr8:
53570023-53570023

C

A

exonic

De novo

nonsynonymous SNV

NM_001083617
NM_014781

c.G2366T
c.G2366T

p.G789V
p.G789V

2.896

-

Yuen2017 G

RB1CC1

1-0531-003

chr8:
53721448-53721448

T

A

intergenic

De novo

-

Yuen2016 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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