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Results for "RANBP9"

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
RANBP9     JASD_Fam0156chr6:
13625977-13625977
GAexonicDe novononsynonymous SNVNM_005493c.C1967Tp.A656V36.0-Takata2018 E
RANBP9     ASP023chr6:
13625977-13625977
GAexonicDe novononsynonymous SNVNM_005493c.C1967Tp.A656V36.0-Lim2017 E
Satterstrom2020 E
RANBP9     2-1143-003chr6:
13783470-13783470
GAintergenicDe novo--Yuen2017 G
RANBP9     AU2863303chr6:
13671442-13671442
ACintronicDe novo--Yuen2017 G
RANBP9     Lim2017:37434chr6:
13711321-13711321
GAexonicDe novosynonymous SNVNM_005493c.C417Tp.A139A--Lim2017 E
RANBP9     1-0352-005chr6:
13718099-13718099
CAintergenicDe novo--Yuen2017 G
RANBP9     14604.p1chr6:
13711321-13711321
GAexonicDe novosynonymous SNVNM_005493c.C417Tp.A139A--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
RANBP9     AU4433301chr6:
13641272-13641272
AGintronicDe novo--Yuen2017 G
RANBP9     2-0003-003chr6:
13773765-13773765
GAintergenicDe novo--Yuen2017 G
RANBP9     2-0043-003chr6:
13671544-13671544
AGintronicDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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