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Results for "RUFY2"

Variant Events: 10

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
RUFY2     12795.p1chr10:
70160205-70160205
GAintronicDe novo--Turner2016 G
RUFY2     AU3903302chr10:
70105588-70105588
TCexonicDe novosynonymous SNVNM_017987c.A1863Gp.P621P--Yuen2017 G
RUFY2     SSC09695chr10:
70143890-70143890
TCexonicDe novononsynonymous SNVNM_001042417
NM_001278225
NM_017987
c.A638G
c.A566G
c.A845G
p.N213S
p.N189S
p.N282S
13.59-Lim2017 E
RUFY2     13979.p1chr10:
70143890-70143890
TCexonicDe novononsynonymous SNVNM_001042417
NM_001278225
NM_017987
c.A638G
c.A566G
c.A845G
p.N213S
p.N189S
p.N282S
13.59-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
RUFY2     AU2787302chr10:
70160221-70160226
CAGGAGCAGintronicDe novo--Yuen2017 G
RUFY2     14114.p1chr10:
70105859-70105859
TCintronicDe novo--Krumm2015 E
Satterstrom2020 E
RUFY2     14099.p1chr10:
70161326-70161326
CAintronicDe novo--Satterstrom2020 E
RUFY2     5-0099-003chr10:
70144065-70144065
GAintronicDe novo--Yuen2017 G
RUFY2     AU4239301chr10:
70119264-70119264
TAintronicDe novo--Yuen2017 G
RUFY2     AU4239301chr10:
70119272-70119272
CTintronicDe 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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