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Results for "COL5A1"

Variant Events: 33

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--Trost2022 G
Yuen2017 G
COL5A1     SP0009386chr9:
137704336-137704336
CTexonicDe novosynonymous SNVNM_000093
NM_001278074
c.C3732T
c.C3732T
p.D1244D
p.D1244D
-2.481E-5Fu2022 E
Trost2022 G
Zhou2022 GE
COL5A1     SP0013752chr9:
137660291-137660291
CTexonicDe novosynonymous SNVNM_000093
NM_001278074
c.C2268T
c.C2268T
p.P756P
p.P756P
-5.769E-5Fu2022 E
Trost2022 G
Zhou2022 GE
COL5A1     SP0071506chr9:
137676798-137676798
GGGGGGGGGCAintronicDe novo--Fu2022 E
COL5A1     REACH000423chr9:
137677062-137677062
CTintronicDe novo--Trost2022 G
COL5A1     SP0030596chr9:
137623526-137623526
CTintronicDe novo--Fu2022 E
Trost2022 G
COL5A1     2-0305-004chr9:
137701283-137701285
TAGCTCGAintronicDe novo--Trost2022 G
COL5A1     5-0025-004chr9:
137594462-137594462
CTintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     09C95232chr9:
137653873-137653873
AGintronicDe novo--Satterstrom2020 E
Trost2022 G
COL5A1     5-0003-003chr9:
137593870-137593870
GAintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     AU028305chr9:
137568476-137568476
GAintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     2-0057-003chr9:
137636536-137636536
TTGCintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     2-0299-005chr9:
137583819-137583819
CTintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     2-0295-003chr9:
137684673-137684675
GTAGintronicDe novo--Yuen2017 G
COL5A1     2-0323-004chr9:
137614657-137614657
GGAintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     AU4145303chr9:
137637105-137637105
GAintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     AU027506chr9:
137606135-137606135
TCintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     2-0012-004chr9:
137710272-137710272
CTintronicDe novo--Trost2022 G
Yuen2017 G
COL5A1     MSSNG00081-003chr9:
137556914-137556914
GAintronicDe novo--Trost2022 G
COL5A1     SJD_65.3chr9:
137560949-137560949
GCintronicDe novo--Trost2022 G
COL5A1     11855.p1chr9:
137640148-137640150
CATCintronicUnknown--Werling2018 G
COL5A1     3-0368-000chr9:
137656729-137656733
CATTTCintronicDe novo--Trost2022 G
COL5A1     1-0202-003chr9:
137669176-137669176
GGGGCGCintronicDe novo--Trost2022 G
COL5A1     SP0076495chr9:
137705881-137705881
CTexonicDe novononsynonymous SNVNM_000093
NM_001278074
c.C3905T
c.C3905T
p.P1302L
p.P1302L
14.075.442E-5Fu2022 E
Trost2022 G
Zhou2022 GE
COL5A1     MSSNG00066-003chr9:
137620826-137620826
GAintronicDe novo--Trost2022 G
COL5A1     AU4233301chr9:
137703470-137703470
CTintronicDe novo-4.787E-5Trost2022 G
Yuen2017 G
COL5A1     SP0137641chr9:
137623405-137623405
CTexonicDe novononsynonymous SNVNM_000093
NM_001278074
c.C1228T
c.C1228T
p.R410W
p.R410W
6.7743.302E-5Fu2022 E
Trost2022 G
Zhou2022 GE
COL5A1     REACH000173chr9:
137624106-137624106
GTintronicDe novo--Trost2022 G
COL5A1     2-0299-005chr9:
137606216-137606217
AAGGintronicDe novo--Trost2022 G
COL5A1     Wang2023:478chr9:
137534068-137534068
CTexonicDe novononsynonymous SNVNM_000093
NM_001278074
c.C35T
c.C35T
p.A12V
p.A12V
7.67-Wang2023 E
COL5A1     7-0396-003chr9:
137609736-137609736
GTintronicDe novo--Trost2022 G
COL5A1     REACH000154chr9:
137576995-137576995
TGintronicDe novo--Trost2022 G
COL5A1     7-0371-003chr9:
137577235-137577235
ACintronicDe novo--Trost2022 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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