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Results for "COL6A6"

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
COL6A6     1-0534-003chr3:
130330709-130330709
AGintronicDe novo--Yuen2017 G
COL6A6     11685.p1chr3:
130345392-130345392
GAsplicingDe novosplicing11.54-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
COL6A6     Cukier2014:37994chr3:
130282383-130282383
CAexonicUnknownnonsynonymous SNVNM_001102608c.C536Ap.T179K23.30.0131Cukier2014 E
COL6A6     2-1291-003chr3:
130321445-130321445
CAintronicDe novo--Yuen2016 G
Yuen2017 G
COL6A6     iHART1191chr3:
130289949-130289949
CCACATexonicPaternalframeshift insertionNM_001102608c.2689_2690insACATp.H897fs-4.0E-4Ruzzo2019 G
COL6A6     1-0452-003chr3:
130370040-130370040
GAintronicDe novo--Yuen2016 G
Yuen2017 G
COL6A6     iHART2158chr3:
130381153-130381153
GGTsplicingPaternalsplicing--Ruzzo2019 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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