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Results for "RBL1"

Variant Events: 8

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
RBL1     AU3806304chr20:
35668937-35668937
GAintronicDe novo--Yuen2017 G
RBL1     1-0273-004chr20:
35713537-35713537
TTCintronicDe novo--Yuen2017 G
RBL1     SJD_50chr20:
35684650-35684650
CTexonicMaternalnonsynonymous SNVNM_002895
NM_183404
c.G1262A
c.G1262A
p.R421H
p.R421H
21.99.437E-6Toma2013 E
RBL1     iHART2855chr20:
35689613-35689615
TTCTexonicPaternalframeshift deletionNM_002895
NM_183404
c.1141_1142del
c.1141_1142del
p.E381fs
p.E381fs
--Ruzzo2019 G
RBL1     1-0998-003chr20:
35671808-35671808
TCintronicDe novo--Yuen2017 G
RBL1     AU2123302chr20:
35682362-35682362
AGintronicDe novo--Yuen2017 G
RBL1     AU2292301chr20:
35632354-35632354
TCintronicDe novo--Yuen2017 G
RBL1     AU2292302chr20:
35632354-35632354
TCintronicDe novo--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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