or
or
Exact

Results for "COL5A1"

Variant Events: 14

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
COL5A1     2-0057-004chr9:
137636536-137636536
TTGCintronicDe novo--Yuen2017 G
COL5A1     2-0323-004chr9:
137614657-137614657
GGAintronicDe novo--Yuen2017 G
COL5A1     AU4145303chr9:
137637105-137637105
GAintronicDe novo--Yuen2017 G
COL5A1     5-0025-004chr9:
137594462-137594462
CTintronicDe novo--Yuen2017 G
COL5A1     AU027506chr9:
137606135-137606135
TCintronicDe novo--Yuen2017 G
COL5A1     09C95232chr9:
137653873-137653873
AGintronicDe novo--Satterstrom2020 E
COL5A1     2-0012-004chr9:
137710272-137710272
CTintronicDe novo--Yuen2017 G
COL5A1     5-0003-003chr9:
137593870-137593870
GAintronicDe novo--Yuen2017 G
COL5A1     11855.p1chr9:
137640148-137640150
CATCintronicUnknown--Werling2018 G
COL5A1     AU028305chr9:
137568476-137568476
GAintronicDe novo--Yuen2017 G
COL5A1     2-0057-003chr9:
137636536-137636536
TTGCintronicDe novo--Yuen2017 G
COL5A1     2-0299-005chr9:
137583819-137583819
CTintronicDe novo--Yuen2017 G
COL5A1     2-0295-003chr9:
137684673-137684675
GTAGintronicDe novo--Yuen2017 G
COL5A1     AU4233301chr9:
137703470-137703470
CTintronicDe novo-4.787E-5Yuen2017 G
Source Variant Information

, -

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
More