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Results for "ADAMTSL4"

Variant Events: 4

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
ADAMTSL4     14441.p1chr1:
150529511-150529511
CTexonicDe novononsynonymous SNVNM_019032
NM_025008
NM_001288608
c.C1846T
c.C1846T
c.C1915T
p.P616S
p.P616S
p.P639S
6.805-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ADAMTSL4     1-0757-003chr1:
150531706-150531706
CTintronicDe novo--Yuen2017 G
ADAMTSL4     14316.p1chr1:
150526082-150526082
CTexonicDe novosynonymous SNVNM_001288607
NM_001288608
NM_019032
NM_025008
c.C615T
c.C615T
c.C615T
c.C615T
p.S205S
p.S205S
p.S205S
p.S205S
-1.0E-4Krumm2015 E
ADAMTSL4     1670021chr1:
150527937-150527937
CTexonicDe novononsynonymous SNVNM_019032
NM_025008
NM_001288607
NM_001288608
c.C1267T
c.C1267T
c.C1336T
c.C1336T
p.R423W
p.R423W
p.R446W
p.R446W
20.71.664E-5Satterstrom2020 E
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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