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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     5-0009-003chr5:
178652630-178652630
CTintronicDe novo--Trost2022 G
ADAMTS2     MSSNG00201-003chr5:
178653867-178653867
CTintronicDe novo--Trost2022 G
ADAMTS2     7-0202-003chr5:
178644913-178644913
CAintronicDe novo--Trost2022 G
ADAMTS2     7-0102-003chr5:
178646797-178646797
TCintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS2     1-1005-005Achr5:
178647367-178647367
GAintronicDe novo--Trost2022 G
ADAMTS2     MSSNG00369-003chr5:
178635174-178635174
TCintronicDe novo--Trost2022 G
ADAMTS2     2-0202-003chr5:
178644849-178644849
TTAGGGGATGGTGCAAGGGGGGATGGGCAintronicDe novo--Yuen2017 G
ADAMTS2     AU0146301chr5:
178918388-178918388
CTintergenicDe novo--Yuen2017 G
ADAMTS2     AU066404chr5:
178660052-178660052
CTintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS2     7-0202-003chr5:
178644906-178644908
CTGGCAintronicDe novo--Trost2022 G
ADAMTS2     AU024105 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
ADAMTS2     1-0552-003chr5:
178635172-178635172
ACintronicDe novo--Trost2022 G
ADAMTS2     7-0253-004chr5:
178945583-178945583
CAintergenicDe novo--Yuen2017 G
ADAMTS2     2-1798-003chr5:
178635174-178635174
TGintronicDe novo--Trost2022 G
ADAMTS2     SJD_69.3chr5:
178738579-178738579
GAintronicDe novo--Trost2022 G
ADAMTS2     AU058103chr5:
178740209-178740209
AGintronicDe novo--Trost2022 G
ADAMTS2     DEASD_4034_001chr5:
178555055-178555055
AGexonicDe novononsynonymous SNVNM_014244c.T2522Cp.L841P11.68-Fu2022 E
ADAMTS2     2-1776-003chr5:
178723287-178723287
CTintronicDe novo--Trost2022 G
ADAMTS2     1-0579-003chr5:
178616496-178616496
CAintronicDe novo--Yuen2017 G
ADAMTS2     1-0553-003chr5:
178726912-178726912
AGintronicDe novo--Trost2022 G
ADAMTS2     5-0024-003chr5:
178679235-178679235
CGintronicDe novo--Trost2022 G
ADAMTS2     3-0208-000chr5:
178712953-178712953
GAintronicDe novo--Trost2022 G
ADAMTS2     AU2508301chr5:
178654081-178654082
GCGintronicDe novo--Trost2022 G
ADAMTS2     7-0389-003chr5:
178659218-178659218
CTintronicDe novo--Trost2022 G
ADAMTS2     5-5217-003chr5:
178759180-178759180
ACintronicDe novo--Trost2022 G
ADAMTS2     3-0346-000chr5:
178742308-178742308
ACintronicDe novo--Trost2022 G
ADAMTS2     2-1398-003chr5:
178756099-178756103
AGGGCCGTGTintronicDe novo--Trost2022 G
ADAMTS2     2-0003-004chr5:
178785837-178785837
GCintergenicDe novo--Yuen2017 G
ADAMTS2     AU4173301chr5:
178688682-178688682
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS2     2-1220-003chr5:
178908928-178908928
TCintergenicDe novo--Yuen2017 G
ADAMTS2     13063.p1chr5:
178559204-178559204
GAintronicDe novo-8.439E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ADAMTS2     1-0067-004chr5:
178644761-178644761
AAGintronicDe novo--Yuen2017 G
ADAMTS2     7-0082-003chr5:
178644769-178644770
TGTintronicDe novo--Yuen2017 G
ADAMTS2     2-1242-003chr5:
178733371-178733371
CTintronicDe novo--Yuen2016 G
ADAMTS2     2-1441-003chr5:
178721671-178721671
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ADAMTS2     AU4372309chr5:
178764307-178764307
CAintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS2     1-0555-003chr5:
178644769-178644770
TGTintronicDe novo--Yuen2017 G
ADAMTS2     1-0253-005chr5:
178803491-178803491
CGintergenicDe novo--Yuen2017 G
ADAMTS2     11252.p1chr5:
178552196-178552196
CTintronicDe novo-5.027E-5Krumm2015 E
Satterstrom2020 E
Turner2016 G
ADAMTS2     2-1562-004chr5:
178606545-178606545
CCCTTintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS2     1-0486-003chr5:
178694275-178694275
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS2     AU071703chr5:
178893855-178893855
CTintergenicDe novo--Yuen2017 G
ADAMTS2     152-HSC0079chr5:
178553060-178553060
CTexonicInheritednonsynonymous SNVNM_014244c.G2689Ap.A897T2.4754.978E-5Patowary2019 E
ADAMTS2     2-0171-003chr5:
178621417-178621417
GCintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS2     AU1635302chr5:
178630638-178630638
GAintronicDe novo--Trost2022 G
Yuen2017 G
ADAMTS2     1-0346-004chr5:
178866128-178866128
CTintergenicDe novo--Yuen2017 G
ADAMTS2     2-1178-003chr5:
178631444-178631444
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ADAMTS2     AU2463301chr5:
178559707-178559707
CTintronicDe novo--Trost2022 G
ADAMTS2     2-1552-003chr5:
178563404-178563404
CAintronicDe novo--Trost2022 G
ADAMTS2     SSC02051chr5:
178552196-178552196
CTintronicDe novo-5.027E-5Trost2022 G
ADAMTS2     1-0253-004chr5:
178803491-178803491
CGintergenicDe novo--Yuen2017 G
ADAMTS2     5-0109-003chr5:
178936965-178936965
CGintergenicDe novo--Yuen2017 G
ADAMTS2     SSC06654chr5:
178559204-178559204
GAintronicDe novo-8.439E-6Trost2022 G
ADAMTS2     2-0305-003chr5:
178636530-178636530
CCATGTintronicDe novo--Yuen2017 G
ADAMTS2     5-5237-005chr5:
178548272-178548272
CTintronicDe novo--Trost2022 G
ADAMTS2     2-1255-003chr5:
178823157-178823157
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
ADAMTS2     SP0070045chr5:
178585795-178585795
GAexonicDe novononsynonymous SNVNM_014244
NM_021599
c.C1061T
c.C1061T
p.T354M
p.T354M
15.078.253E-6Fu2022 E
Trost2022 G
Zhou2022 GE
ADAMTS2     1-0483-004chr5:
178623280-178623280
TCintronicDe novo--Trost2022 G
ADAMTS2     SP0120019chr5:
178770838-178770838
CGexonicDe novononsynonymous SNVNM_014244
NM_021599
c.G464C
c.G464C
p.C155S
p.C155S
20.6-Fu2022 E
Trost2022 G
Zhou2022 GE
ADAMTS2     1-0111-003chr5:
178635157-178635157
ACintronicDe novo--Trost2022 G
ADAMTS2     5-0076-003chr5:
178616659-178616659
GAintronicDe novo--Trost2022 G
ADAMTS2     2-1243-003chr5:
178617687-178617687
GAintronicDe novo--Trost2022 G
ADAMTS2     7-0446-003chr5:
178566023-178566023
TAintronicDe novo--Trost2022 G
ADAMTS2     MSSNG00328-003chr5:
178603564-178603564
GAintronicDe novo--Trost2022 G
ADAMTS2     2-1379-003chr5:
178649090-178649090
TCintronicDe novo--Yuen2016 G
ADAMTS2     SP0139126chr5:
178553025-178553025
GCexonicDe novononsynonymous SNVNM_014244c.C2724Gp.C908W15.08-Fu2022 E
Trost2022 G
Zhou2022 GE
ADAMTS2     2-0304-003chr5:
178563522-178563523
TGCAintronicDe novo--Trost2022 G
ADAMTS2     SP0172642chr5:
178564928-178564928
CTexonicDe novononsynonymous SNVNM_014244c.G1793Ap.R598H24.9-Trost2022 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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