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Results for "COL15A1"

Variant Events: 27

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
COL15A1     2-1242-003chr9:
101717325-101717325
CTintronicDe novo--Yuen2016 G
COL15A1     1-0439-003chr9:
101783022-101783022
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
COL15A1     2-0285-004chr9:
101735403-101735403
CAintronicDe novo--Trost2022 G
Yuen2017 G
COL15A1     302-05-103645chr9:
101796868-101796868
TAsplicingDe novosplicing16.06-Fu2022 E
COL15A1     MSSNG00243-003chr9:
101742393-101742393
GTintronicDe novo--Trost2022 G
COL15A1     AU2224301chr9:
101746929-101746929
GAintronicDe novo--Trost2022 G
COL15A1     MSSNG00023-003chr9:
101723008-101723008
GCintronicDe novo--Trost2022 G
COL15A1     TRE_995chr9:
101706354-101706354
GAexonicDe novononsynonymous SNVNM_001855c.G11Ap.R4K16.26-Fu2022 E
COL15A1     2-1723-003chr9:
101737769-101737771
TCTGCCintronicDe novo--Trost2022 G
COL15A1     2-1731-003chr9:
101809193-101809193
CTintronicDe novo--Trost2022 G
Yuen2017 G
COL15A1     2-0198-004chr9:
101818738-101818753
AAGGTCACAGCATCTGTintronicDe novo--Trost2022 G
COL15A1     2-1644-003chr9:
101830413-101830414
CTTGintronicDe novo--Trost2022 G
COL15A1     AU2283301chr9:
101788261-101788261
CTintronicDe novo-1.0E-4Trost2022 G
COL15A1     1-0289-003chr9:
101714461-101714461
GTintronicDe novo--Trost2022 G
Yuen2017 G
COL15A1     SP0206170chr9:
101811981-101811981
GCexonicDe novononsynonymous SNVNM_001855c.G2803Cp.G935R18.45-Trost2022 G
COL15A1     3-0405-000chr9:
101750069-101750069
GAintronicDe novo--Trost2022 G
COL15A1     1-0978-003chr9:
101856084-101856084
GTintergenicDe novo--Yuen2017 G
COL15A1     1-1213-003chr9:
101764306-101764306
TCintronicDe novo--Trost2022 G
COL15A1     02C11573Achr9:
101832099-101832099
AGexonicDe novosynonymous SNVNM_001855c.A4098Gp.A1366A--Neale2012 E
COL15A1     G01_GEA511HIchr9:
101798322-101798322
CTintronicDe novo--Fu2022 E
COL15A1     mAGRE5909chr9:
101810116-101810116
CTexonicMaternalstopgainNM_001855c.C2728Tp.R910X43.0-Cirnigliaro2023 G
COL15A1     mAGRE5908chr9:
101810116-101810116
CTexonicMaternalstopgainNM_001855c.C2728Tp.R910X43.0-Cirnigliaro2023 G
COL15A1     1-0756-005chr9:
101787484-101787484
CTintronicDe novo--Trost2022 G
Yuen2017 G
COL15A1     mAGRE5246chr9:
101782726-101782726
TAsplicingMaternalsplicing6.5948.264E-5Cirnigliaro2023 G
COL15A1     2-1626-003chr9:
101710513-101710515
TGATintronicDe novo--Yuen2017 G
COL15A1     1-0339-003chr9:
101726920-101726920
TGintronicDe novo--Trost2022 G
Yuen2017 G
COL15A1     1-0450-003chr9:
101771256-101771256
AGintronicDe novo--Trost2022 G
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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