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Results for "ADAMTS17"

Variant Events: 28

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
ADAMTS17     1-0289-004chr15:
100746475-100746475
AATGintronicDe novo--Yuen2017 G
ADAMTS17     1-0757-003chr15:
100834420-100834420
CTintronicDe novo--Yuen2017 G
ADAMTS17     2-1629-003chr15:
100857815-100857815
CAintronicDe novo--Yuen2017 G
ADAMTS17     1-0330-003chr15:
100659942-100659954
TCTGCTTCTGCTGTintronicDe novo--Yuen2017 G
ADAMTS17     AU050704chr15:
100512841-100512841
CTUTR3De novo--Yuen2017 G
ADAMTS17     AU2162302chr15:
100714833-100714833
TCintronicDe novo--Yuen2017 G
ADAMTS17     AU3906301chr15:
100872418-100872418
GCintronicDe novo--Yuen2017 G
ADAMTS17     2-1250-003chr15:
100636504-100636504
TCintronicDe novo--Yuen2017 G
ADAMTS17     2-1730-003chr15:
100613268-100613268
CAintronicDe novo--Yuen2017 G
ADAMTS17     AU4423303chr15:
100710758-100710758
CTintronicDe novo--Yuen2017 G
ADAMTS17     1-0075-003chr15:
100715895-100715895
GAintronicDe novo--Yuen2017 G
ADAMTS17     AU3801301chr15:
100526023-100526023
CGintronicDe novo--Yuen2017 G
ADAMTS17     11263.p1chr15:
100649236-100649236
GAexonicMosaicsynonymous SNVNM_139057c.C1974Tp.C658C-8.266E-6Dou2017 E
ADAMTS17     AU3951301chr15:
100774868-100774868
GAintronicDe novo--Yuen2017 G
ADAMTS17     1-0595-005chr15:
100641185-100641190
TCTTAATintronicDe novo--Yuen2017 G
ADAMTS17     AU4070301chr15:
100648195-100648195
CTintronicDe novo--Yuen2017 G
ADAMTS17     2-0299-005chr15:
100689361-100689361
CCTTTTGCTGTintronicDe novo--Yuen2017 G
ADAMTS17     AU3724301chr15:
100689740-100689740
GAintronicDe novo--Yuen2017 G
ADAMTS17     7-0151-003chr15:
100594436-100594436
GCintronicDe novo--Yuen2017 G
ADAMTS17     DEASD_0177_001chr15:
100636667-100636667
GAexonicDe novosynonymous SNVNM_139057c.C2031Tp.D677D-2.472E-5Satterstrom2020 E
ADAMTS17     5-0041-003chr15:
100550904-100550904
AGintronicDe novo--Yuen2017 G
ADAMTS17     2-1632-003chr15:
100696098-100696101
AGGGAGGintronicDe novo--Yuen2017 G
ADAMTS17     iHART3141chr15:
100657051-100657051
CTsplicingPaternalsplicing14.31-Ruzzo2019 G
ADAMTS17     DEASD_0020_001chr15:
100636667-100636667
GAexonicDe novosynonymous SNVNM_139057c.C2031Tp.D677D-2.472E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ADAMTS17     1-0835-003chr15:
100702996-100702996
TCintronicDe novo--Yuen2017 G
ADAMTS17     2-0122-004chr15:
100764529-100764529
GGGGTAintronicDe novo--Yuen2017 G
ADAMTS17     AU4356302chr15:
100840669-100840669
CTintronicDe novo--Yuen2017 G
ADAMTS17     iHART3142chr15:
100657051-100657051
CTsplicingPaternalsplicing14.31-Ruzzo2019 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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