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Results for "ADAMTS2"
Variant Events: 68
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
ADAMTS2
5-0009-003
chr5:
178652630-178652630
C
T
intronic
De novo
-
-
Trost2022
G
ADAMTS2
MSSNG00201-003
chr5:
178653867-178653867
C
T
intronic
De novo
-
-
Trost2022
G
ADAMTS2
7-0202-003
chr5:
178644913-178644913
C
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
7-0102-003
chr5:
178646797-178646797
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
1-1005-005A
chr5:
178647367-178647367
G
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
MSSNG00369-003
chr5:
178635174-178635174
T
C
intronic
De novo
-
-
Trost2022
G
ADAMTS2
2-0202-003
chr5:
178644849-178644849
T
TAGGGGATGGTGCAAGGGGGGATGGGCA
intronic
De novo
-
-
Yuen2017
G
ADAMTS2
AU0146301
chr5:
178918388-178918388
C
T
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
AU066404
chr5:
178660052-178660052
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
7-0202-003
chr5:
178644906-178644908
CTG
GCA
intronic
De novo
-
-
Trost2022
G
ADAMTS2
AU024105
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
1-0552-003
chr5:
178635172-178635172
A
C
intronic
De novo
-
-
Trost2022
G
ADAMTS2
7-0253-004
chr5:
178945583-178945583
C
A
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
2-1798-003
chr5:
178635174-178635174
T
G
intronic
De novo
-
-
Trost2022
G
ADAMTS2
SJD_69.3
chr5:
178738579-178738579
G
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
AU058103
chr5:
178740209-178740209
A
G
intronic
De novo
-
-
Trost2022
G
ADAMTS2
DEASD_4034_001
chr5:
178555055-178555055
A
G
exonic
De novo
nonsynonymous SNV
NM_014244
c.T2522C
p.L841P
11.68
-
Fu2022
E
ADAMTS2
2-1776-003
chr5:
178723287-178723287
C
T
intronic
De novo
-
-
Trost2022
G
ADAMTS2
1-0579-003
chr5:
178616496-178616496
C
A
intronic
De novo
-
-
Yuen2017
G
ADAMTS2
1-0553-003
chr5:
178726912-178726912
A
G
intronic
De novo
-
-
Trost2022
G
ADAMTS2
5-0024-003
chr5:
178679235-178679235
C
G
intronic
De novo
-
-
Trost2022
G
ADAMTS2
3-0208-000
chr5:
178712953-178712953
G
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
AU2508301
chr5:
178654081-178654082
GC
G
intronic
De novo
-
-
Trost2022
G
ADAMTS2
7-0389-003
chr5:
178659218-178659218
C
T
intronic
De novo
-
-
Trost2022
G
ADAMTS2
5-5217-003
chr5:
178759180-178759180
A
C
intronic
De novo
-
-
Trost2022
G
ADAMTS2
3-0346-000
chr5:
178742308-178742308
A
C
intronic
De novo
-
-
Trost2022
G
ADAMTS2
2-1398-003
chr5:
178756099-178756103
AGGGC
CGTGT
intronic
De novo
-
-
Trost2022
G
ADAMTS2
2-0003-004
chr5:
178785837-178785837
G
C
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
AU4173301
chr5:
178688682-178688682
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
2-1220-003
chr5:
178908928-178908928
T
C
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
13063.p1
chr5:
178559204-178559204
G
A
intronic
De novo
-
8.439E-6
Iossifov2014
E
Kosmicki2017
E
Satterstrom2020
E
ADAMTS2
1-0067-004
chr5:
178644761-178644761
A
AG
intronic
De novo
-
-
Yuen2017
G
ADAMTS2
7-0082-003
chr5:
178644769-178644770
TG
T
intronic
De novo
-
-
Yuen2017
G
ADAMTS2
2-1242-003
chr5:
178733371-178733371
C
T
intronic
De novo
-
-
Yuen2016
G
ADAMTS2
2-1441-003
chr5:
178721671-178721671
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
ADAMTS2
AU4372309
chr5:
178764307-178764307
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
1-0555-003
chr5:
178644769-178644770
TG
T
intronic
De novo
-
-
Yuen2017
G
ADAMTS2
1-0253-005
chr5:
178803491-178803491
C
G
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
11252.p1
chr5:
178552196-178552196
C
T
intronic
De novo
-
5.027E-5
Krumm2015
E
Satterstrom2020
E
Turner2016
G
ADAMTS2
2-1562-004
chr5:
178606545-178606545
C
CCTT
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
1-0486-003
chr5:
178694275-178694275
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
AU071703
chr5:
178893855-178893855
C
T
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
152-HSC0079
chr5:
178553060-178553060
C
T
exonic
Inherited
nonsynonymous SNV
NM_014244
c.G2689A
p.A897T
2.475
4.978E-5
Patowary2019
E
ADAMTS2
2-0171-003
chr5:
178621417-178621417
G
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
AU1635302
chr5:
178630638-178630638
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ADAMTS2
1-0346-004
chr5:
178866128-178866128
C
T
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
2-1178-003
chr5:
178631444-178631444
C
T
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
ADAMTS2
AU2463301
chr5:
178559707-178559707
C
T
intronic
De novo
-
-
Trost2022
G
ADAMTS2
2-1552-003
chr5:
178563404-178563404
C
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
SSC02051
chr5:
178552196-178552196
C
T
intronic
De novo
-
5.027E-5
Trost2022
G
ADAMTS2
1-0253-004
chr5:
178803491-178803491
C
G
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
5-0109-003
chr5:
178936965-178936965
C
G
intergenic
De novo
-
-
Yuen2017
G
ADAMTS2
SSC06654
chr5:
178559204-178559204
G
A
intronic
De novo
-
8.439E-6
Trost2022
G
ADAMTS2
2-0305-003
chr5:
178636530-178636530
C
CATGT
intronic
De novo
-
-
Yuen2017
G
ADAMTS2
5-5237-005
chr5:
178548272-178548272
C
T
intronic
De novo
-
-
Trost2022
G
ADAMTS2
2-1255-003
chr5:
178823157-178823157
A
G
intergenic
De novo
-
-
Yuen2016
G
Yuen2017
G
ADAMTS2
SP0070045
chr5:
178585795-178585795
G
A
exonic
De novo
nonsynonymous SNV
NM_014244
NM_021599
c.C1061T
c.C1061T
p.T354M
p.T354M
15.07
8.253E-6
Fu2022
E
Trost2022
G
Zhou2022
G
E
ADAMTS2
1-0483-004
chr5:
178623280-178623280
T
C
intronic
De novo
-
-
Trost2022
G
ADAMTS2
SP0120019
chr5:
178770838-178770838
C
G
exonic
De novo
nonsynonymous SNV
NM_014244
NM_021599
c.G464C
c.G464C
p.C155S
p.C155S
20.6
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
ADAMTS2
1-0111-003
chr5:
178635157-178635157
A
C
intronic
De novo
-
-
Trost2022
G
ADAMTS2
5-0076-003
chr5:
178616659-178616659
G
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
2-1243-003
chr5:
178617687-178617687
G
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
7-0446-003
chr5:
178566023-178566023
T
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
MSSNG00328-003
chr5:
178603564-178603564
G
A
intronic
De novo
-
-
Trost2022
G
ADAMTS2
2-1379-003
chr5:
178649090-178649090
T
C
intronic
De novo
-
-
Yuen2016
G
ADAMTS2
SP0139126
chr5:
178553025-178553025
G
C
exonic
De novo
nonsynonymous SNV
NM_014244
c.C2724G
p.C908W
15.08
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
ADAMTS2
2-0304-003
chr5:
178563522-178563523
TG
CA
intronic
De novo
-
-
Trost2022
G
ADAMTS2
SP0172642
chr5:
178564928-178564928
C
T
exonic
De novo
nonsynonymous SNV
NM_014244
c.G1793A
p.R598H
24.9
-
Trost2022
G
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
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