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Results for "ADAMTS20"

Variant Events: 19

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
ADAMTS20     MT_109chr12:
43860485-43860485
CTexonicPaternalnonsynonymous SNVNM_025003c.G1337Ap.C446Y19.76-Toma2013 E
ADAMTS20     1-0965-003chr12:
43750603-43750603
CTintronicDe novo--Yuen2017 G
ADAMTS20     2-0238-003chr12:
44090926-44090926
TGintergenicDe novo--Yuen2017 G
ADAMTS20     7-0255-003chr12:
43944410-43944410
AGintronicDe novo--Yuen2017 G
ADAMTS20     11068.p1chr12:
43945591-43945591
GAintronicDe novo--Satterstrom2020 E
ADAMTS20     13462.p1chr12:
43770053-43770053
CAexonicMosaicstopgainNM_025003c.G5206Tp.G1736X42.0-Krupp2017 E
ADAMTS20     iHART2279chr12:
43769275-43769285
TTCTACTCCCATexonicPaternalframeshift deletionNM_025003c.5343_5352delp.N1781fs-2.472E-5Ruzzo2019 G
ADAMTS20     2-0295-004chr12:
43928171-43928171
GTintronicDe novo--Yuen2017 G
ADAMTS20     iHART1547chr12:
43823440-43823440
GAexonicMaternalstopgainNM_025003c.C3469Tp.R1157X40.01.0E-4Ruzzo2019 G
ADAMTS20     AU072004chr12:
43894114-43894114
GAintronicDe novo--Yuen2017 G
ADAMTS20     iHART2281chr12:
43769275-43769285
TTCTACTCCCATexonicPaternalframeshift deletionNM_025003c.5343_5352delp.N1781fs-2.472E-5Ruzzo2019 G
ADAMTS20     5-0116-003chr12:
43920651-43920651
GAintronicDe novo--Yuen2017 G
ADAMTS20     1-0546-003chr12:
43810795-43810795
AGintronicDe novo--Yuen2017 G
ADAMTS20     iHART1641chr12:
43925841-43925841
GCexonicPaternalstopgainNM_025003c.C611Gp.S204X15.66.031E-5Ruzzo2019 G
ADAMTS20     1-0345-003chr12:
44028107-44028107
TTCGintergenicDe novo--Yuen2017 G
ADAMTS20     G01-GEA-287-HIchr12:
43944663-43944663
GTintronicDe novo--Satterstrom2020 E
ADAMTS20     1-0107-003chr12:
43765752-43765752
GCintronicDe novo--Yuen2016 G
Yuen2017 G
ADAMTS20     2-0219-004chr12:
43758327-43758327
TGintronicDe novo--Yuen2017 G
ADAMTS20     147-06-105672chr12:
43823483-43823483
GAexonicDe novosynonymous SNVNM_025003c.C3426Tp.T1142T-3.0E-4Satterstrom2020 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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