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Results for "RNF216"

Variant Events: 14

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
RNF216     74-0075chr7:
5740027-5740027
GAintronicDe novo--Michaelson2012 G
RNF216     A11chr7:
5767693-5767693
CTintronicDe novo--Wu2018 G
RNF216     11002.p1chr7:
5699943-5699943
ATintronicDe novo--Turner2016 G
RNF216     AU031403chr7:
5788057-5788057
AGintronicDe novo--Yuen2017 G
RNF216     1-0863-003chr7:
5788308-5788308
ACintronicDe novo--Yuen2017 G
RNF216     1-0985-003chr7:
5807744-5807744
TCintronicDe novo--Yuen2017 G
RNF216     AU3875301chr7:
5795273-5795276
TTCTTTintronicDe novo--Yuen2017 G
RNF216     1-0271-003chr7:
5699191-5699191
GCintronicDe novo--Yuen2017 G
RNF216     AU3846303chr7:
5748673-5748673
CTintronicDe novo--Yuen2017 G
RNF216     AU045010chr7:
5841052-5841052
TCintergenicDe novo--Yuen2017 G
RNF216     AC02-1197-01chr7:
5752394-5752394
CTexonicDe novononsynonymous SNVNM_207111
NM_207116
c.G1934A
c.G1763A
p.R645Q
p.R588Q
34.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RNF216     7-0133-003chr7:
5693301-5693301
ACintronicDe novo--Yuen2017 G
RNF216     AU007503chr7:
5740027-5740027
GAintronicDe novo--Yuen2017 G
RNF216     AU3637301chr7:
5743954-5743954
GAintronicDe 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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