or
or
Exact

Results for "RBM47"

Variant Events: 24

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
RBM47     5-0018-003chr4:
40680995-40680995
GCintergenicDe novo--Yuen2017 G
RBM47     5-0138-003chr4:
40536653-40536653
TGintronicDe novo--Yuen2017 G
RBM47     2-1267-003chr4:
40481858-40481858
CTintronicDe novo--Yuen2017 G
RBM47     1-0271-003chr4:
40701405-40701405
AGintergenicDe novo--Yuen2017 G
RBM47     AU3911302chr4:
40514610-40514610
TGintronicDe novo--Yuen2017 G
RBM47     MT_69chr4:
40434858-40434858
GAexonicPaternalnonsynonymous SNVNM_019027
NM_001098634
c.C1145T
c.C1352T
p.A382V
p.A451V
16.611.65E-5Toma2013 E
RBM47     2-1357-003chr4:
40534200-40534200
TCintronicDe novo--Yuen2017 G
RBM47     1-0467-005chr4:
40710880-40710880
GTintergenicDe novo--Yuen2017 G
RBM47     AU066403chr4:
40466301-40466301
CTintronicDe novo--Yuen2017 G
RBM47     AU4228301chr4:
40455389-40455389
AGintronicDe novo--Yuen2017 G
RBM47     2-1356-003chr4:
40488019-40488019
TGintronicDe novo--Yuen2017 G
RBM47     AU3154301chr4:
40731069-40731078
CGCCTGGGTGCGintergenicDe novo--Yuen2017 G
RBM47     11341.p1chr4:
40599514-40599514
GAintronicDe novo--Turner2016 G
RBM47     2-0018-004chr4:
40583668-40583668
ACintronicDe novo--Yuen2017 G
RBM47     1-0019-004chr4:
40685597-40685597
CTintergenicDe novo--Yuen2017 G
RBM47     2-1355-004chr4:
40491674-40491674
ACintronicDe novo--Yuen2017 G
RBM47     AU039304chr4:
40699313-40699313
GAintergenicDe novo--Yuen2017 G
RBM47     AU2140305chr4:
40736372-40736372
CTintergenicDe novo--Yuen2017 G
RBM47     2-1066-004chr4:
40685842-40685842
ATintergenicDe novo--Yuen2017 G
RBM47     AU031404chr4:
40702702-40702702
GAintergenicDe novo--Yuen2017 G
RBM47     1-0209-003chr4:
40743766-40743766
CTintergenicDe novo--Yuen2017 G
RBM47     1-0547-003chr4:
40530969-40530974
ATAAATAintronicDe novo--Yuen2017 G
RBM47     AU3636301chr4:
40474696-40474696
TCintronicDe novo--Yuen2017 G
RBM47     2-1644-004chr4:
40544500-40544500
GAintronicDe novo--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 notesView
More