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Results for "RBM25"

Variant Events: 14

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
RBM25     14590.p1chr14:
73537493-73537493
AGintronicDe novo--Turner2016 G
RBM25     1-0323-003chr14:
73527007-73527007
CTintronicDe novo--Yuen2017 G
RBM25     2-1341-004chr14:
73531909-73531910
CTCintronicDe novo--Yuen2017 G
RBM25     14590.p1chr14:
73537498-73537498
GTintronicDe novo--Turner2016 G
RBM25     14590.p1chr14:
73537500-73537500
TCintronicDe novo--Turner2016 G
RBM25     1-0139-003chr14:
73552227-73552227
GAintronicDe novo--Yuen2017 G
RBM25     2-1525-003chr14:
73552930-73552930
CTintronicDe novo--Yuen2017 G
RBM25     21742-34594chr14:
73570005-73570005
CTexonicInheritednonsynonymous SNVNM_021239c.C973Tp.R325W15.97-Callaghan2019 G
RBM25     2-1297-004chr14:
73552227-73552227
GAintronicDe novo--Yuen2017 G
RBM25     AU075703chr14:
73532612-73532612
AGintronicDe novo--Yuen2017 G
RBM25     7-0223-003chr14:
73559601-73559601
GAintronicDe novo--Yuen2017 G
RBM25     AU4219302chr14:
73589288-73589288
CTintergenicDe novo--Yuen2017 G
RBM25     1-0435-003chr14:
73558731-73558731
CTintronicDe novo--Yuen2017 G
RBM25     AU3915301chr14:
73552780-73552780
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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