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Results for "COL6A3"

Variant Events: 12

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
COL6A3     2-0299-005chr2:
238312260-238312260
GAintronicDe novo--Yuen2017 G
COL6A3     AU038703chr2:
238364540-238364540
GAintergenicDe novo--Yuen2017 G
COL6A3     Cukier2014:17478chr2:
238271991-238271991
GAexonicUnknownnonsynonymous SNVNM_057166
NM_057167
NM_004369
c.C4147T
c.C5350T
c.C5968T
p.R1383W
p.R1784W
p.R1990W
6.6140.0012Cukier2014 E
COL6A3     SP0038530chr2:
238270522-238270522
AAGCAGAAAATCATAAATintronicDe novo--Fu2022 E
COL6A3     SP0021846chr2:
238258844-238258844
GAexonicDe novosynonymous SNVNM_057166
NM_057167
NM_004369
c.C5004T
c.C6207T
c.C6825T
p.P1668P
p.P2069P
p.P2275P
-1.0E-4Fu2022 E
COL6A3     Cukier2014:18074chr2:
238253016-238253016
GAexonicUnknownnonsynonymous SNVNM_057166
NM_057167
NM_004369
c.C5824T
c.C7027T
c.C7645T
p.R1942W
p.R2343W
p.R2549W
10.190.0027Cukier2014 E
COL6A3     SP0047603chr2:
238296531-238296531
GAexonicDe novononsynonymous SNVNM_057165
NM_057167
NM_004369
c.C388T
c.C388T
c.C1006T
p.R130W
p.R130W
p.R336W
14.724.153E-5Fu2022 E
COL6A3     1-0377-003chr2:
238246489-238246489
CTintronicDe novo--Yuen2017 G
COL6A3     11969.p1chr2:
238243325-238243325
ACexonicDe novononsynonymous SNVNM_057166
NM_057167
NM_004369
c.T7352G
c.T8555G
c.T9173G
p.V2451G
p.V2852G
p.V3058G
9.5831.0E-4Satterstrom2020 E
COL6A3     AU065304chr2:
238280537-238280537
GTexonicDe novononsynonymous SNVNM_057166
NM_057164
NM_057165
NM_057167
NM_004369
c.C2302A
c.C2902A
c.C3505A
c.C3505A
c.C4123A
p.Q768K
p.Q968K
p.Q1169K
p.Q1169K
p.Q1375K
0.939-Yuen2017 G
COL6A3     11024.p1chr2:
238266577-238266577
TCintronicDe novo--Satterstrom2020 E
COL6A3     AU061003chr2:
238262034-238262034
CTexonicDe novononsynonymous SNVNM_057166
NM_057167
NM_004369
c.G4819A
c.G6022A
c.G6640A
p.G1607S
p.G2008S
p.G2214S
4.5844.134E-5Yuen2017 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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