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Results for "COL26A1"

Variant Events: 12

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
COL26A1     1-0985-003chr7:
101182559-101182601
CTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGintronicDe novo--Yuen2017 G
COL26A1     7-0100-004chr7:
101150478-101150478
GAintronicDe novo--Yuen2017 G
COL26A1     AU012804chr7:
101176761-101176761
GCintronicDe novo--Yuen2017 G
COL26A1     AU3888302chr7:
101147864-101147864
TCintronicDe novo--Yuen2017 G
COL26A1     2-1261-004chr7:
101005390-101005390
ACupstreamDe novo--Yuen2017 G
COL26A1     12582.p1chr7:
101091005-101091005
CTexonicDe novounknown20.7-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
COL26A1     7-0255-003chr7:
101176354-101176354
CGintronicDe novo--Yuen2017 G
COL26A1     2-1235-004chr7:
101060229-101060231
GCCGintronicDe novo--Yuen2017 G
COL26A1     SSC05882chr7:
101091005-101091005
CTexonicDe novounknown20.7-Lim2017 E
COL26A1     AU3907302chr7:
101163148-101163148
CTintronicDe novo--Yuen2017 G
COL26A1     11456.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
COL26A1     7-0012-003chr7:
101128746-101128746
GTintronicDe 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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