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Results for "COL6A2"

Variant Events: 5

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
COL6A2     7-0255-003chr21:
47552238-47552238
CTexonicDe novosynonymous SNVNM_001849c.C2832Tp.F944F--Yuen2017 G
COL6A2     SP0006428chr21:
47551998-47551998
GTexonicDe novosynonymous SNVNM_001849c.G2592Tp.T864T--Fu2022 E
COL6A2     SP0106215chr21:
47536061-47536061
GAintronicDe novo--Fu2022 E
COL6A2     691-05-105394chr21:
47532270-47532270
GCexonicDe novononsynonymous SNVNM_001849
NM_058174
NM_058175
c.G493C
c.G493C
c.G493C
p.V165L
p.V165L
p.V165L
19.56-Fu2022 E
Satterstrom2020 E
COL6A2     Kim2020:B37chr21:
47541504-47541504
GAexonicDe novononsynonymous SNVNM_001849
NM_058174
NM_058175
c.G1493A
c.G1493A
c.G1493A
p.R498H
p.R498H
p.R498H
24.02.517E-5Kim2020 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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