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Results for "RUFY3"

Variant Events: 16

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
RUFY3     AU030703chr4:
71617790-71617790
GTintronicDe novo--Yuen2017 G
RUFY3     DEASD_0110_001chr4:
71588304-71588304
CTexonicDe novononsynonymous SNVNM_001037442
NM_001291994
NM_014961
c.C14T
c.C14T
c.C14T
p.T5M
p.T5M
p.T5M
25.68.28E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RUFY3     DEASD_0043_002chr4:
71629352-71629352
AGexonicDe novononsynonymous SNVNM_001037442
NM_001130709
NM_014961
NM_001291993
NM_001291994
c.A436G
c.A616G
c.A436G
c.A277G
c.A490G
p.I146V
p.I206V
p.I146V
p.I93V
p.I164V
17.07-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RUFY3     1-0339-003chr4:
71598147-71598147
GAintronicDe novo--Yuen2017 G
RUFY3     1-0433-004chr4:
71617326-71617329
CTGTCintronicDe novo--Yuen2017 G
RUFY3     NDAR_INVHB587BPE_wes1chr4:
71660616-71660616
TCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
RUFY3     7-0059-003chr4:
71632258-71632258
GAintronicDe novo--Yuen2017 G
RUFY3     AU4356302chr4:
71610572-71610572
AGintronicDe novo--Yuen2017 G
RUFY3     1924-23853chr4:
71665895-71665897
TAATexonicframeshift deletionNM_001037442
NM_001291993
c.1596_1597del
c.1437_1438del
p.L532fs
p.L479fs
--Callaghan2019 G
RUFY3     2-0202-003chr4:
71644740-71644740
ACintronicDe novo--Yuen2017 G
RUFY3     2-1605-004chr4:
71664191-71664191
GGAintronicDe novo--Yuen2017 G
RUFY3     AU2109302chr4:
71624879-71624879
AGintronicDe novo--Yuen2017 G
RUFY3     1-0481-003chr4:
71663027-71663027
TCintronicDe novo--Yuen2017 G
RUFY3     SJD_49chr4:
71634283-71634283
AGexonicMaternalnonsynonymous SNVNM_001037442
NM_001130709
NM_014961
NM_001291993
NM_001291994
c.A601G
c.A781G
c.A601G
c.A442G
c.A655G
p.M201V
p.M261V
p.M201V
p.M148V
p.M219V
15.331.0E-4Toma2013 E
RUFY3     2-1696-003chr4:
71634050-71634050
CTintronicDe novo--Yuen2017 G
RUFY3     2-0144-003chr4:
71570502-71570502
GTupstreamDe 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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