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Results for "ADAMTSL1"

Variant Events: 30

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
ADAMTSL1     1-0330-004chr9:
18925522-18925522
TTGintergenicDe novo--Yuen2017 G
ADAMTSL1     2-1341-004chr9:
18892945-18892945
CGintronicDe novo--Yuen2017 G
ADAMTSL1     13872.p1chr9:
18721602-18721602
GAexonicDe novononsynonymous SNVNM_001040272c.G1945Ap.V649M19.215.77E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ADAMTSL1     1-0871-003chr9:
18898336-18898336
GCintronicDe novo--Yuen2017 G
ADAMTSL1     5-0026-003chr9:
18825665-18825667
GACGintronicDe novo--Yuen2017 G
ADAMTSL1     AU4033303chr9:
18841348-18841348
CTintronicDe novo--Yuen2017 G
ADAMTSL1     1-0394-003chr9:
18712119-18712119
AGintronicDe novo--Yuen2017 G
ADAMTSL1     AU1988302chr9:
18841430-18841430
GAintronicDe novo--Yuen2017 G
ADAMTSL1     AU056003chr9:
18853729-18853729
GAintronicDe novo--Yuen2017 G
ADAMTSL1     A15chr9:
18694805-18694805
GAintronicDe novo--Wu2018 G
ADAMTSL1     14251.p1chr9:
18829795-18829795
AAGCCCTGTintronicDe novo--Satterstrom2020 E
ADAMTSL1     SSC07798chr9:
18622342-18622342
TCexonicDe novosynonymous SNVNM_001040272
NM_052866
c.T576C
c.T576C
p.Y192Y
p.Y192Y
--Lim2017 E
ADAMTSL1     1-0452-003chr9:
18488949-18488949
TAintronicDe novo--Yuen2016 G
Yuen2017 G
ADAMTSL1     AU3680302chr9:
18579726-18579726
GAintronicDe novo--Yuen2017 G
ADAMTSL1     AU076705chr9:
18623372-18623372
AGintronicDe novo--Yuen2017 G
ADAMTSL1     AU027506chr9:
18676914-18676914
CTintronicDe novo--Yuen2017 G
ADAMTSL1     AU3051302chr9:
18538809-18538809
CAintronicDe novo--Yuen2017 G
ADAMTSL1     1-0272-004chr9:
18637297-18637297
CAintronicDe novo--Yuen2017 G
ADAMTSL1     1-0158-012chr9:
18824668-18824668
CTintronicDe novo--Yuen2017 G
ADAMTSL1     2-1342-003chr9:
18533302-18533302
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ADAMTSL1     12620.p1chr9:
18622342-18622342
TCexonicDe novosynonymous SNVNM_001040272
NM_052866
c.T576C
c.T576C
p.Y192Y
p.Y192Y
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ADAMTSL1     AU2863303chr9:
18825694-18825694
CTintronicDe novo--Yuen2017 G
ADAMTSL1     5-0077-003chr9:
18686195-18686195
AGintronicDe novo--Yuen2017 G
ADAMTSL1     5-0050-003chr9:
18672641-18672641
ACintronicDe novo--Yuen2017 G
ADAMTSL1     1-0271-004chr9:
18831037-18831037
AGintronicDe novo--Yuen2017 G
ADAMTSL1     2-1250-003chr9:
18550616-18550616
GCintronicDe novo--Yuen2017 G
ADAMTSL1     AU3900301chr9:
18715365-18715365
GAintronicDe novo--Yuen2017 G
ADAMTSL1     AU3912302chr9:
18539460-18539460
CTintronicDe novo--Yuen2017 G
ADAMTSL1     2-1222-003chr9:
18502383-18502383
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ADAMTSL1     1-0324-003chr9:
18708741-18708741
TCintronicDe novo--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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