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Results for "RBBP8"

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
RBBP8     80001100820chr18:
20602158-20602158
CTexonicDe novononsynonymous SNVNM_002894
NM_203291
c.C2521T
c.C2521T
p.R841C
p.R841C
16.41.648E-5Satterstrom2020 E
RBBP8     3-0111-000chr18:
20571866-20571866
GCintronicDe novo--Yuen2016 G
RBBP8     AU036203chr18:
20580674-20580674
ACintronicDe novo--Yuen2017 G
RBBP8     AU4067301chr18:
20597458-20597458
CTintronicDe novo--Yuen2017 G
RBBP8     Li2017:20766chr18:
20602152-20602152
CTexonicUnknownstopgainNM_002894
NM_203291
c.C2515T
c.C2515T
p.R839X
p.R839X
36.0-Li2017 T
RBBP8     AU3840302chr18:
20539419-20539419
CGintronicDe novo--Yuen2017 G
RBBP8     AU3787302chr18:
20656538-20656538
ATintergenicDe novo--Yuen2017 G
RBBP8     A28chr18:
20637444-20637444
TCintergenicDe novo--Wu2018 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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