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Results for "C1orf50"

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
C1orf50     PN400100chr1:
43240508-43240508
GAexonicUnknownnonsynonymous SNVNM_024097c.G383Ap.G128D34.0-Leblond2019 E
C1orf50     MSSNG00429-003chr1:
43239245-43239245
CAexonicDe novononsynonymous SNVNM_024097c.C207Ap.F69L18.16-Trost2022 G
Zhou2022 GE
C1orf50     9190777chr1:
43240888-43240888
GAexonicDe novosynonymous SNVNM_024097c.G423Ap.G141G--Fu2022 E
C1orf50     SP0085402chr1:
43233086-43233086
GAintronicDe novo--Fu2022 E
Trost2022 G
Trost2022 G
C1orf50     SP0049070chr1:
43232933-43232933
GCUTR5De novo--Fu2022 E
C1orf50     AU056003chr1:
43242234-43242234
CTdownstreamDe novo--Trost2022 G
Yuen2017 G
C1orf50     GEA378chr1:
43233055-43233055
CTexonicDe novostopgainNM_024097c.C73Tp.Q25X23.9-Fu2022 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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