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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     Li2017:17618chr8:
53571523-53571523
CTexonicUnknownnonsynonymous SNVNM_001083617
NM_014781
c.G1703A
c.G1703A
p.R568Q
p.R568Q
34.08.477E-6Li2017 T
RB1CC1     2-1702-003chr8:
53585645-53585651
GTGCTATGintronicDe novo--Yuen2017 G
RB1CC1     A26chr8:
53590613-53590613
CGintronicDe novo--Wu2018 G
RB1CC1     Li2017:17643chr8:
53573725-53573725
ACexonicUnknownnonsynonymous SNVNM_001083617
NM_014781
c.T1475G
c.T1475G
p.V492G
p.V492G
15.45-Li2017 T
RB1CC1     AU2035302chr8:
53553666-53553666
GAintronicDe novo--Yuen2017 G
RB1CC1     07C71059chr8:
53580644-53580644
GAexonicDe novosynonymous SNVNM_001083617
NM_014781
c.C1110T
c.C1110T
p.Y370Y
p.Y370Y
-1.649E-5Fu2022 E
Satterstrom2020 E
RB1CC1     Li2017:21837chr8:
53573716-53573716
ACexonicUnknownnonsynonymous SNVNM_001083617
NM_014781
c.T1484G
c.T1484G
p.M495R
p.M495R
16.998.243E-6Li2017 T
RB1CC1     AU062204chr8:
53539061-53539061
AGintronicDe novo--Yuen2017 G
RB1CC1     2-1297-003chr8:
53634813-53634813
AGintergenicDe novo--Yuen2017 G
RB1CC1     AU061003chr8:
53750269-53750269
CTintergenicDe novo--Yuen2017 G
RB1CC1     AU2792301chr8:
53827984-53827984
GAintergenicDe novo--Yuen2017 G
RB1CC1     13504.p1chr8:
53536476-53536476
TAintronicMosaic--Dou2017 E
RB1CC1     2-1456-003chr8:
53573917-53573921
AACTTAintronicDe novo--Yuen2017 G
RB1CC1     AU2035301chr8:
53553666-53553666
GAintronicDe novo--Yuen2017 G
RB1CC1     AU3997301chr8:
53674852-53674852
TAintergenicDe novo--Yuen2017 G
RB1CC1     14153.p1chr8:
53764529-53764529
GAintergenicDe novo--Turner2016 G
RB1CC1     AU056804chr8:
53665700-53665700
TCintergenicDe novo--Yuen2017 G
RB1CC1     AU2293302chr8:
53801337-53801337
CTintergenicDe novo--Yuen2017 G
RB1CC1     2-1702-004chr8:
53585645-53585651
GTGCTATGintronicDe novo--Yuen2017 G
RB1CC1     2-0286-003chr8:
53740991-53740996
TTACTCTintergenicDe novo--Yuen2017 G
RB1CC1     AU027506chr8:
53806048-53806048
GCintergenicDe novo--Yuen2017 G
RB1CC1     1-0345-003chr8:
53740991-53740996
TTACTCTintergenicDe novo--Yuen2017 G
RB1CC1     2-1730-003chr8:
53537292-53537293
GTGTTexonicDe novostopgainNM_001083617
NM_014781
c.4682dupA
c.4691dupA
p.Y1561_C1562delinsX
p.Y1564_C1565delinsX
--Yuen2017 G
RB1CC1     Li2017:19675chr8:
53573690-53573690
CAexonicUnknownnonsynonymous SNVNM_001083617
NM_014781
c.G1510T
c.G1510T
p.V504L
p.V504L
19.4-Li2017 T
RB1CC1     Li2017:19705chr8:
53596215-53596215
GCexonicUnknownnonsynonymous SNVNM_001083617
NM_014781
c.C263G
c.C263G
p.P88R
p.P88R
26.3-Li2017 T
RB1CC1     2-0286-004chr8:
53740991-53740996
TTACTCTintergenicDe novo--Yuen2017 G
RB1CC1     SP0004092chr8:
53596251-53596251
TCexonicDe novononsynonymous SNVNM_001083617
NM_014781
c.A227G
c.A227G
p.K76R
p.K76R
29.5-Fu2022 E
RB1CC1     AU065304chr8:
53799808-53799808
ATintergenicDe novo--Yuen2017 G
RB1CC1     AU3984302chr8:
53826654-53826654
TAintergenicDe novo--Yuen2017 G
RB1CC1     AU3811305chr8:
53570023-53570023
CAexonicDe novononsynonymous SNVNM_001083617
NM_014781
c.G2366T
c.G2366T
p.G789V
p.G789V
2.896-Yuen2017 G
RB1CC1     1-0531-003chr8:
53721448-53721448
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

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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 notesView
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