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Results for "RNF213"

Variant Events: 18

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
RNF213     1-0435-003chr17:
78255438-78255441
ACTCACintronicDe novo--Yuen2017 G
RNF213     1-0494-003Achr17:
78237818-78237835
TCCGTCCCTCGTTCAGGCTintronicDe novo--Yuen2017 G
RNF213     iHART1891chr17:
78319432-78319432
CCTexonicPaternalframeshift insertionNM_001256071c.7298dupTp.L2433fs--Ruzzo2019 G
RNF213     iHART3202chr17:
78247177-78247177
TAexonicDe novononsynonymous SNVNM_001256071
NM_020954
c.T235A
c.T235A
p.S79T
p.S79T
6.716-Ruzzo2019 G
RNF213     13451.p1chr17:
78353516-78353516
TCsplicingMosaic, De novosplicing13.68-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
RNF213     2-0318-003chr17:
78255197-78255197
TCintronicDe novo--Yuen2017 G
RNF213     SSC09735chr17:
78353516-78353516
TCsplicingDe novosplicing13.68-Lim2017 E
RNF213     iHART1531chr17:
78320293-78320293
CCTexonicPaternalframeshift insertionNM_001256071c.8159dupTp.L2720fs--Ruzzo2019 G
RNF213     SSC07079chr17:
78263533-78263533
GAexonicDe novononsynonymous SNVNM_001256071
NM_020954
c.G1009A
c.G1009A
p.E337K
p.E337K
10.39-Lim2017 E
RNF213     iHART1894chr17:
78319432-78319432
CCTexonicPaternalframeshift insertionNM_001256071c.7298dupTp.L2433fs--Ruzzo2019 G
RNF213     2-1525-003chr17:
78265883-78265893
AGGACTTTTTGAGintronicDe novo--Yuen2017 G
RNF213     2-0142-004chr17:
78255120-78255125
ACCACTAintronicDe novo--Yuen2017 G
RNF213     13319.p1chr17:
78263533-78263533
GAexonicDe novononsynonymous SNVNM_001256071
NM_020954
c.G1009A
c.G1009A
p.E337K
p.E337K
10.39-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
RNF213     iHART1964chr17:
78350762-78350762
CGexonicPaternalstopgainNM_001256071c.C13509Gp.Y4503X47.08.647E-6Ruzzo2019 G
RNF213     iHART1532chr17:
78320293-78320293
CCTexonicPaternalframeshift insertionNM_001256071c.8159dupTp.L2720fs--Ruzzo2019 G
RNF213     2-1722-003chr17:
78259966-78259966
CTintronicDe novo--Yuen2017 G
RNF213     7-0179-003chr17:
78261683-78261683
CAexonicDe novononsynonymous SNVNM_001256071
NM_020954
c.C331A
c.C331A
p.P111T
p.P111T
4.9-Yuen2017 G
RNF213     2-1358-003chr17:
78295597-78295597
CGintronicDe 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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