Home
Publications
Statistics
Downloads
About
Documentation
Gene Symbol:
Submit
or
Region:
Submit
or
Sample:
Exact
Submit
Home
Search by gene
Results for "ADAMTS15"
Variant Events: 14
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
ADAMTS15
AU2793303
chr11:
130473137-130473137
A
G
intergenic
De novo
-
-
Yuen2017
G
ADAMTS15
AU4306302
chr11:
130372308-130372308
A
G
intergenic
De novo
-
-
Yuen2017
G
ADAMTS15
2-1497-003
chr11:
130468855-130468855
G
A
intergenic
De novo
-
-
Yuen2017
G
ADAMTS15
AU3811305
chr11:
130380617-130380617
G
A
intergenic
De novo
-
-
Yuen2017
G
ADAMTS15
2-1330-003
chr11:
130455694-130455694
A
G
intergenic
De novo
-
-
Yuen2017
G
ADAMTS15
SP0146130
chr11:
130332387-130332387
T
C
intronic
De novo
-
-
Fu2022
E
ADAMTS15
1-0079-003
chr11:
130323487-130323487
C
T
intronic
De novo
-
-
Yuen2017
G
ADAMTS15
2-1461-003
chr11:
130324484-130324484
T
C
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
ADAMTS15
09C96031
chr11:
130339253-130339253
A
C
exonic
De novo
nonsynonymous SNV
NM_139055
c.A1639C
p.T547P
14.26
1.0E-4
Fu2022
E
ADAMTS15
SP0000753
chr11:
130339155-130339155
A
G
splicing
De novo
splicing
16.48
9.121E-6
Feliciano2019
E
Fu2022
E
ADAMTS15
7-0002-003
chr11:
130342997-130342997
C
T
exonic
De novo
nonsynonymous SNV
NM_139055
c.C2134T
p.R712C
22.0
2.483E-5
Yuen2017
G
ADAMTS15
1-0590-003
chr11:
130420741-130420757
TTCCTCCTCCTCCTCCT
TTCCTCCTCCTCCT
intergenic
De novo
-
-
Yuen2017
G
ADAMTS15
2-0208-003
chr11:
130513984-130513984
A
G
intergenic
De novo
-
-
Yuen2017
G
ADAMTS15
ASC_CA_40_A
chr11:
130343003-130343003
C
T
exonic
De novo
nonsynonymous SNV
NM_139055
c.C2140T
p.R714C
31.0
8.268E-6
Fu2022
E
Satterstrom2020
E
Source Variant Information
?
, -
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 notes
View
More