Variant Results

or

Results for "ADAMTS2"

Variant Events: 36

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

1-0067-004

chr5:
178644761-178644761

A

AG

intronic

De novo

-

Yuen2017 G

ADAMTS2

7-0102-003

chr5:
178646797-178646797

T

C

intronic

De novo

-

Yuen2017 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

-

Yuen2017 G

ADAMTS2

AU024105

chr5:
178708900-178708902

TAA

TA

intronic

De novo

-

Yuen2017 G

ADAMTS2

7-0253-004

chr5:
178945583-178945583

C

A

intergenic

De novo

-

Yuen2017 G

ADAMTS2

7-0082-003

chr5:
178644769-178644770

TG

T

intronic

De novo

-

Yuen2017 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

1-0579-003

chr5:
178616496-178616496

C

A

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

-

Yuen2016 G
Yuen2017 G

ADAMTS2

AU4372309

chr5:
178764307-178764307

C

A

intronic

De novo

-

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

-

Yuen2017 G

ADAMTS2

2-0003-004

chr5:
178785837-178785837

G

C

intergenic

De novo

-

Yuen2017 G

ADAMTS2

1-0486-003

chr5:
178694275-178694275

G

A

intronic

De novo

-

Yuen2017 G

ADAMTS2

AU071703

chr5:
178893855-178893855

C

T

intergenic

De novo

-

Yuen2017 G

ADAMTS2

AU4173301

chr5:
178688682-178688682

G

A

intronic

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

-

Yuen2017 G

ADAMTS2

AU1635302

chr5:
178630638-178630638

G

A

intronic

De novo

-

Yuen2017 G

ADAMTS2

2-1220-003

chr5:
178908928-178908928

T

C

intergenic

De novo

-

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

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

2-0305-003

chr5:
178636530-178636530

C

CATGT

intronic

De novo

-

Yuen2017 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

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

ADAMTS2

13063.p1

chr5:
178559204-178559204

G

A

intronic

De novo

-

8.439E-6

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

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

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
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