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Results for "ADAMTS9"

Variant Events: 33

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--Trost2022 G
Yuen2017 G
ADAMTS9     14490.p1 Complex Event; expand row to view variants  De novostopgain, synonymous SNV, nonframeshift substitutionNM_182920
NM_182920
NM_182920
c.C4543T
c.C4542A
c.4542_4543AT
p.R1515X
p.G1514G
N/A
48.0-Iossifov2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
ADAMTS9     SP0048085chr3:
64619246-64619246
CGexonicDe novononsynonymous SNVNM_182920c.G2077Cp.A693P22.0-Fu2022 E
Trost2022 G
Zhou2022 GE
ADAMTS9     12820.p1chr3:
64666926-64666926
GAexonicDe novosynonymous SNVNM_182920c.C630Tp.S210S-1.653E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ADAMTS9     SP0026391chr3:
64524911-64524911
CGexonicDe novononsynonymous SNVNM_182920c.G5581Cp.G1861R28.0-Fu2022 E
Trost2022 G
Zhou2022 GE
ADAMTS9     AU3343301chr3:
64504690-64504690
GCintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS9     SP0050968chr3:
64587845-64587845
CTexonicDe novononsynonymous SNVNM_182920c.G3792Ap.M1264I7.5671.649E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ADAMTS9     SP0028445chr3:
64587720-64587720
TGexonicDe novononsynonymous SNVNM_182920c.A3917Cp.Q1306P9.725-Fu2022 E
ADAMTS9     SP0010751chr3:
64536533-64536533
TGintronicDe novo--Fu2022 E
ADAMTS9     SP0093105chr3:
64635418-64635418
TCexonicDe novosynonymous SNVNM_182920c.A1500Gp.E500E--Fu2022 E
Trost2022 G
Zhou2022 GE
ADAMTS9     MT_12.3chr3:
64516955-64516958
AGCTAintronicDe novo--Trost2022 G
ADAMTS9     3-0199-000chr3:
64519033-64519033
TGintronicDe novo--Trost2022 G
ADAMTS9     1-0511-003chr3:
64660604-64660604
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS9     2-1519-003chr3:
64513538-64513538
CAintronicDe novo--Trost2022 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
Trost2022 G
Zhou2022 GE
ADAMTS9     1398_18auchr3:
64641387-64641387
AGintronicDe novo--Fu2022 E
ADAMTS9     12820_p1chr3:
64666926-64666926
GAexonicDe novosynonymous SNVNM_182920c.C630Tp.S210S-1.653E-5Fu2022 E
ADAMTS9     1-1215-003chr3:
64637936-64637936
TCintronicDe novo--Trost2022 G
ADAMTS9     MT_16.3chr3:
64660307-64660307
TCintronicDe novo--Trost2022 G
ADAMTS9     SP0238018chr3:
64587894-64587894
GAintronicDe novo--Trost2022 G
ADAMTS9     AU2320301chr3:
64623366-64623366
TGintronicDe novo--Trost2022 G
ADAMTS9     AU3792301chr3:
64529982-64529982
CTintronicDe novo--Trost2022 G
ADAMTS9     REACH000409chr3:
64530764-64530764
TCintronicDe novo--Trost2022 G
ADAMTS9     7-0140-003chr3:
64617659-64617665
AAATAATAAATintronicDe novo--Yuen2017 G
ADAMTS9     1-0433-003chr3:
64672513-64672513
ATexonicDe novononsynonymous SNVNM_182920c.T247Ap.W83R11.5-Trost2022 G
Yuen2015 G
Zhou2022 GE
ADAMTS9     AU4159301chr3:
64603988-64603988
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS9     A3chr3:
64656107-64656107
TCintronicDe novo--Wu2018 G
ADAMTS9     2-0223-004chr3:
64536720-64536720
CTexonicDe novononsynonymous SNVNM_182920c.G4717Ap.E1573K12.484.947E-5Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
ADAMTS9     1-0265-004chr3:
64653963-64653963
GCintronicDe novo--Yuen2017 G
ADAMTS9     SSC11511chr3:
64547409-64547409
GAexonicDe novostopgainNM_182920c.C4543Tp.R1515X48.0-Fu2022 E
Trost2022 G
ADAMTS9     1-0898-003chr3:
64512378-64512378
GTintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS9     AU4476302chr3:
64646588-64646588
CTintronicDe novo--Trost2022 G
Yuen2017 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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