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Results for "COL7A1"

Variant Events: 9

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
COL7A1     JASD_Fam0194chr3:
48611123-48611123
CTexonicDe novosynonymous SNVNM_000094c.G6573Ap.P2191P-1.775E-5Takata2018 E
COL7A1     09C88928chr3:
48620021-48620021
CTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
COL7A1     DEASD_0427_001 Complex Event; expand row to view variants  De novononsynonymous SNV, synonymous SNVNM_000094
NM_000094
NM_000094
c.A7620C
c.G7622A
c.C7621A
p.E2540D
p.R2541Q
p.R2541R
10.841.647E-5DeRubeis2014 E
DeRubeis2014 E
DeRubeis2014 E
Kosmicki2017 E
Kosmicki2017 E
Kosmicki2017 E
COL7A1     08C74824chr3:
48623870-48623870
CTexonicDe novononsynonymous SNVNM_000094c.G3445Ap.D1149N12.1-Satterstrom2020 E
COL7A1     Uddin2014:19chr3:
48621941-48621941
GTexonicDe novosynonymous SNVNM_000094c.C4096Ap.R1366R--Uddin2014 E
COL7A1     SSC08218chr3:
48623618-48623618
CTexonicDe novosynonymous SNVNM_000094c.G3612Ap.A1204A-2.487E-5Lim2017 E
COL7A1     G01-GEA-26-HIchr3:
48610098-48610098
GTintronicDe novo--Satterstrom2020 E
COL7A1     2-1368-003chr3:
48621941-48621941
GAexonicDe novononsynonymous SNVNM_000094c.C4096Tp.R1366W10.443.296E-5Jiang2013 G
Yuen2016 G
Yuen2017 G
COL7A1     13684.p1chr3:
48623618-48623618
CTexonicDe novosynonymous SNVNM_000094c.G3612Ap.A1204A-2.487E-5Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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