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Results for "COL12A1"

Variant Events: 6

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
COL12A1     2-1416-004chr6:
75885759-75885759
GTintronicDe novo--Yuen2017 G
COL12A1     12390.p1chr6:
75875492-75875492
CTexonicDe novononsynonymous SNVNM_004370c.G2714Ap.R905H14.422.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
COL12A1     5L636chr6:
75912490-75912490
GCexonicDe novononsynonymous SNVNM_004370
NM_080645
c.C19G
c.C19G
p.P7A
p.P7A
9.3854.947E-5Satterstrom2020 E
COL12A1     1-0495-003chr6:
75916005-75916005
TCupstreamDe novo--Yuen2017 G
COL12A1     iHART2231chr6:
75893568-75893568
AGsplicingPaternalsplicing14.82-Ruzzo2019 G
COL12A1     2-1416-003chr6:
75885759-75885759
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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