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Results for "RUVBL1"

Variant Events: 7

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
RUVBL1     11257.p1chr3:
127806574-127806574
ATexonicDe novononsynonymous SNVNM_003707c.T1094Ap.L365Q18.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
RUVBL1     AU3903302chr3:
127803689-127803689
TCintronicDe novo--Yuen2017 G
RUVBL1     2-1506-003chr3:
127839982-127839982
GAintronicDe novo--Yuen2017 G
RUVBL1     Marques2022:220chr3:
127831806-127831806
TCexonicnonsynonymous SNVNM_003707c.A286Gp.M96V18.274.943E-5Marques2022 ET
RUVBL1     AU054103chr3:
127799334-127799334
CAdownstreamDe novo--Yuen2017 G
RUVBL1     Marques2022:219chr3:
127823653-127823653
AGexonicnonsynonymous SNVNM_003707c.T476Cp.I159T24.78.258E-6Marques2022 ET
RUVBL1     Lim2017:5337chr3:
127806574-127806574
ATexonicDe novononsynonymous SNVNM_003707c.T1094Ap.L365Q18.0-Lim2017 E
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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