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Results for "COL27A1"

Variant Events: 15

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
COL27A1     08C73664chr9:
117051247-117051247
CTexonicDe novosynonymous SNVNM_032888c.C4152Tp.P1384P-2.5E-5Satterstrom2020 E
COL27A1     12380.p1chr9:
117044593-117044593
GTexonicDe novononsynonymous SNVNM_032888c.G3754Tp.G1252C16.472.476E-5Ji2016 E
Krumm2015 E
COL27A1     2-0144-004chr9:
117082417-117082417
AACintergenicDe novo--Yuen2017 G
COL27A1     7-0197-003chr9:
117046830-117046830
CTintronicDe novo--Yuen2017 G
COL27A1     1-0153-005chr9:
117057620-117057626
CAATATTCintronicDe novo--Yuen2017 G
COL27A1     13071.p1chr9:
116930294-116930294
CTexonicDe novosynonymous SNVNM_032888c.C459Tp.D153D-2.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
COL27A1     14411.p1chr9:
116930778-116930778
GAexonicDe novononsynonymous SNVNM_032888c.G943Ap.G315R4.601-Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
COL27A1     13830.p1chr9:
116968504-116968504
CTintronicMosaic, De novo--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
COL27A1     13585.p1chr9:
117062318-117062322
ACTCGAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
COL27A1     13063.p1chr9:
117044693-117044693
GAintronicDe novo-5.0E-4Satterstrom2020 E
COL27A1     AU076508chr9:
117038884-117038891
CAAAAAAACAAAAAAintronicDe novo--Yuen2017 G
COL27A1     11367.p1chr9:
117004458-117004458
CAintronicMosaic Mat.--Dou2017 E
COL27A1     1-0507-003chr9:
116989549-116989549
TCintronicDe novo--Yuen2016 G
Yuen2017 G
COL27A1     1-0153-004chr9:
117057620-117057626
CAATATTCintronicDe novo--Yuen2017 G
COL27A1     PN400363chr9:
117044597-117044597
GAexonicUnknownnonsynonymous SNVNM_032888c.G3758Ap.R1253H14.950.0015Leblond2019 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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