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Results for "ADAMTS9"

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
ADAMTS9     1-0265-003chr3:
64653963-64653963
GCintronicDe novo--Yuen2017 G
ADAMTS9     7-0140-003chr3:
64617659-64617665
AAATAATAAATintronicDe novo--Yuen2017 G
ADAMTS9     14490.p1 Complex Event; expand row to view variants  De novostopgain, synonymous SNVNM_182920
NM_182920
c.C4543T
c.C4542A
p.R1515X
p.G1514G
48.0-Iossifov2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ADAMTS9     12820.p1chr3:
64666926-64666926
GAexonicDe novosynonymous SNVNM_182920c.C630Tp.S210S-1.653E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ADAMTS9     1-0433-003chr3:
64672513-64672513
ATexonicDe novononsynonymous SNVNM_182920c.T247Ap.W83R11.5-Yuen2015 G
ADAMTS9     AU3343301chr3:
64504690-64504690
GCintronicDe novo--Yuen2017 G
ADAMTS9     AU4159301chr3:
64603988-64603988
GAintronicDe novo--Yuen2017 G
ADAMTS9     A3chr3:
64656107-64656107
TCintronicDe novo--Wu2018 G
ADAMTS9     1-0511-003chr3:
64660604-64660604
GAintronicDe novo--Yuen2017 G
ADAMTS9     12360.p1chr3:
64666926-64666926
GAexonicDe novosynonymous SNVNM_182920c.C630Tp.S210S-1.653E-5Krumm2015 E
ADAMTS9     DEASD_1023_001chr3:
64601793-64601793
CTexonicDe novononsynonymous SNVNM_182920c.G2867Ap.R956H23.12.0E-4Satterstrom2020 E
ADAMTS9     2-0223-004chr3:
64536720-64536720
CTexonicDe novononsynonymous SNVNM_182920c.G4717Ap.E1573K12.484.947E-5Yuen2015 G
Yuen2017 G
ADAMTS9     1-0265-004chr3:
64653963-64653963
GCintronicDe novo--Yuen2017 G
ADAMTS9     1-0898-003chr3:
64512378-64512378
GTintronicDe novo--Yuen2017 G
ADAMTS9     AU4476302chr3:
64646588-64646588
CTintronicDe novo--Yuen2017 G
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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