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Results for "C8orf31"

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
C8orf31     80001102176chr8:
144130667-144130667
TCexonicDe novostoplossNM_173687c.T397Cp.X133R0.007-Satterstrom2020 E
C8orf31     7-0215-003chr8:
144127029-144127029
GAintronicDe novo--Yuen2017 G
C8orf31     AU2156303chr8:
144162298-144162298
GAintergenicDe novo--Yuen2017 G
C8orf31     13012.p1 Complex Event; expand row to view variants  De novo--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
C8orf31     7-0171-003chr8:
144157654-144157654
CTintergenicDe novo--Yuen2017 G
C8orf31     AU4092302chr8:
144197673-144197673
GAintergenicDe novo--Yuen2017 G
C8orf31     10605chr8:
144124515-144124515
GAintronicDe novo-4.945E-5Satterstrom2020 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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