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Results for "RWDD3"

Variant Events: 11

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
RWDD3     1-0173-004chr1:
95700817-95700817
CGintronicDe novo--Yuen2017 G
RWDD3     13069.p1chr1:
95867932-95867932
AGintergenicDe novo--Turner2016 G
RWDD3     2-0300-004chr1:
95802919-95802919
GGGAGGCATTTintergenicDe novo--Yuen2017 G
RWDD3     12529.p1chr1:
95878203-95878203
TGintergenicDe novo--Turner2016 G
RWDD3     1-0329-003chr1:
95928119-95928119
TCintergenicDe novo--Yuen2017 G
RWDD3     AU3764302chr1:
95782607-95782607
CGintergenicDe novo--Yuen2017 G
RWDD3     2-1086-004chr1:
95802919-95802919
GGGAGGCATTTintergenicDe novo--Yuen2017 G
RWDD3     2-1731-003chr1:
95829033-95829033
GCintergenicDe novo--Yuen2017 G
RWDD3     1-0193-003chr1:
95727296-95727296
ACintergenicDe novo--Yuen2017 G
RWDD3     12380.p1chr1:
95712390-95712390
GAexonicDe novosynonymous SNVNM_015485
NM_001278248
c.G768A
c.G723A
p.K256K
p.K241K
--Krumm2015 E
RWDD3     2-1094-004chr1:
95920448-95920448
ATintergenicDe 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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