Variant Results

or

Results for "ADAMTS17"

Variant Events: 32

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

ADAMTS17

1-0289-004

chr15:
100746475-100746475

A

ATG

intronic

De novo

-

Yuen2017 G

ADAMTS17

1-0757-003

chr15:
100834420-100834420

C

T

intronic

De novo

-

Yuen2017 G

ADAMTS17

2-1629-003

chr15:
100857815-100857815

C

A

intronic

De novo

-

Yuen2017 G

ADAMTS17

1-0330-003

chr15:
100659942-100659954

TCTGCTTCTGCTG

T

intronic

De novo

-

Yuen2017 G

ADAMTS17

AU050704

chr15:
100512841-100512841

C

T

UTR3

De novo

-

Yuen2017 G

ADAMTS17

AU2162302

chr15:
100714833-100714833

T

C

intronic

De novo

-

Yuen2017 G

ADAMTS17

AU3906301

chr15:
100872418-100872418

G

C

intronic

De novo

-

Yuen2017 G

ADAMTS17

2-1250-003

chr15:
100636504-100636504

T

C

intronic

De novo

-

Yuen2017 G

ADAMTS17

2-1730-003

chr15:
100613268-100613268

C

A

intronic

De novo

-

Yuen2017 G

ADAMTS17

AU4423303

chr15:
100710758-100710758

C

T

intronic

De novo

-

Yuen2017 G

ADAMTS17

1-0075-003

chr15:
100715895-100715895

G

A

intronic

De novo

-

Yuen2017 G

ADAMTS17

AU3801301

chr15:
100526023-100526023

C

G

intronic

De novo

-

Yuen2017 G

ADAMTS17

11263.p1

chr15:
100649236-100649236

G

A

exonic

Mosaic

synonymous SNV

NM_139057

c.C1974T

p.C658C

-

8.266E-6

Dou2017 E

ADAMTS17

AU3951301

chr15:
100774868-100774868

G

A

intronic

De novo

-

Yuen2017 G

ADAMTS17

1-0595-005

chr15:
100641185-100641190

TCTTAA

T

intronic

De novo

-

Yuen2017 G

ADAMTS17

AU4070301

chr15:
100648195-100648195

C

T

intronic

De novo

-

Yuen2017 G

ADAMTS17

2-0299-005

chr15:
100689361-100689361

C

CTTTTGCTGT

intronic

De novo

-

Yuen2017 G

ADAMTS17

AU3724301

chr15:
100689740-100689740

G

A

intronic

De novo

-

Yuen2017 G

ADAMTS17

AGG0007

chr15:
100881327-100881327

C

CGGCGGGGCG

exonic

De novo

nonframeshift insertion

NM_139057

c.366_367insCGCCCCGCC

p.E123delinsRPAE

-

Fu2022 E

ADAMTS17

SP0000362

chr15:
100881665-100881665

C

G

intronic

De novo

-

Fu2022 E

ADAMTS17

SP0120843

chr15:
100589110-100589110

C

T

exonic

De novo

nonsynonymous SNV

NM_139057

c.G2543A

p.R848H

29.0

5.767E-5

Fu2022 E

ADAMTS17

7-0151-003

chr15:
100594436-100594436

G

C

intronic

De novo

-

Yuen2017 G

ADAMTS17

DEASD_0177_001

chr15:
100636667-100636667

G

A

exonic

De novo

synonymous SNV

NM_139057

c.C2031T

p.D677D

-

2.472E-5

Fu2022 E
Satterstrom2020 E

ADAMTS17

5-0041-003

chr15:
100550904-100550904

A

G

intronic

De novo

-

Yuen2017 G

ADAMTS17

2-1632-003

chr15:
100696098-100696101

AGGG

AGG

intronic

De novo

-

Yuen2017 G

ADAMTS17

iHART3141

chr15:
100657051-100657051

C

T

splicing

Paternal

splicing

14.31

-

Ruzzo2019 G

ADAMTS17

DEASD_0020_001

chr15:
100636667-100636667

G

A

exonic

De novo

synonymous SNV

NM_139057

c.C2031T

p.D677D

-

2.472E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

ADAMTS17

1-0835-003

chr15:
100702996-100702996

T

C

intronic

De novo

-

Yuen2017 G

ADAMTS17

2-0122-004

chr15:
100764529-100764529

G

GGGTA

intronic

De novo

-

Yuen2017 G

ADAMTS17

AU4356302

chr15:
100840669-100840669

C

T

intronic

De novo

-

Yuen2017 G

ADAMTS17

iHART3142

chr15:
100657051-100657051

C

T

splicing

Paternal

splicing

14.31

-

Ruzzo2019 G

ADAMTS17

SP0124962

chr15:
100881665-100881665

C

T

intronic

De novo

-

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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