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Results for "ADAMTS15"

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
ADAMTS15     1-0079-003chr11:
130323487-130323487
CTintronicDe novo--Yuen2017 G
ADAMTS15     2-1461-003chr11:
130324484-130324484
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ADAMTS15     AU2793303chr11:
130473137-130473137
AGintergenicDe novo--Yuen2017 G
ADAMTS15     AU4306302chr11:
130372308-130372308
AGintergenicDe novo--Yuen2017 G
ADAMTS15     SP0000753chr11:
130339155-130339155
AGsplicingDe novosplicing16.489.121E-6Feliciano2019 E
ADAMTS15     7-0002-003chr11:
130342997-130342997
CTexonicDe novononsynonymous SNVNM_139055c.C2134Tp.R712C22.02.483E-5Yuen2017 G
ADAMTS15     2-1497-003chr11:
130468855-130468855
GAintergenicDe novo--Yuen2017 G
ADAMTS15     AU3811305chr11:
130380617-130380617
GAintergenicDe novo--Yuen2017 G
ADAMTS15     1-0590-003chr11:
130420741-130420757
TTCCTCCTCCTCCTCCTTTCCTCCTCCTCCTintergenicDe novo--Yuen2017 G
ADAMTS15     2-0208-003chr11:
130513984-130513984
AGintergenicDe novo--Yuen2017 G
ADAMTS15     2-1330-003chr11:
130455694-130455694
AGintergenicDe novo--Yuen2017 G
ADAMTS15     ASC_CA_40_Achr11:
130343003-130343003
CTexonicDe novononsynonymous SNVNM_139055c.C2140Tp.R714C31.08.268E-6Satterstrom2020 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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