Variant Results

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Results for "ADAMTS20"

Variant Events: 20

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

ADAMTS20

MT_109

chr12:
43860485-43860485

C

T

exonic

Paternal

nonsynonymous SNV

NM_025003

c.G1337A

p.C446Y

19.76

-

Toma2013 E

ADAMTS20

1-0965-003

chr12:
43750603-43750603

C

T

intronic

De novo

-

-

Yuen2017 G

ADAMTS20

2-0238-003

chr12:
44090926-44090926

T

G

intergenic

De novo

-

-

Yuen2017 G

ADAMTS20

7-0255-003

chr12:
43944410-43944410

A

G

intronic

De novo

-

-

Yuen2017 G

ADAMTS20

11068.p1

chr12:
43945591-43945591

G

A

intronic

De novo

-

-

Satterstrom2020 E

ADAMTS20

13462.p1

chr12:
43770053-43770053

C

A

exonic

Mosaic

stopgain

NM_025003

c.G5206T

p.G1736X

42.0

-

Krupp2017 E

ADAMTS20

iHART2279

chr12:
43769275-43769285

TTCTACTCCCA

T

exonic

Paternal

frameshift deletion

NM_025003

c.5343_5352del

p.N1781fs

-

Ruzzo2019 G

ADAMTS20

2-0295-004

chr12:
43928171-43928171

G

T

intronic

De novo

-

-

Yuen2017 G

ADAMTS20

iHART1547

chr12:
43823440-43823440

G

A

exonic

Maternal

stopgain

NM_025003

c.C3469T

p.R1157X

40.0

Ruzzo2019 G

ADAMTS20

AU072004

chr12:
43894114-43894114

G

A

intronic

De novo

-

-

Yuen2017 G

ADAMTS20

iHART2281

chr12:
43769275-43769285

TTCTACTCCCA

T

exonic

Paternal

frameshift deletion

NM_025003

c.5343_5352del

p.N1781fs

-

Ruzzo2019 G

ADAMTS20

5-0116-003

chr12:
43920651-43920651

G

A

intronic

De novo

-

-

Yuen2017 G

ADAMTS20

1-0546-003

chr12:
43810795-43810795

A

G

intronic

De novo

-

-

Yuen2017 G

ADAMTS20

iHART1641

chr12:
43925841-43925841

G

C

exonic

Paternal

stopgain

NM_025003

c.C611G

p.S204X

15.6

Ruzzo2019 G

ADAMTS20

1-0345-003

chr12:
44028107-44028107

T

TCG

intergenic

De novo

-

-

Yuen2017 G

ADAMTS20

G01-GEA-287-HI

chr12:
43944663-43944663

G

T

intronic

De novo

-

-

Satterstrom2020 E

ADAMTS20

1-0107-003

chr12:
43765752-43765752

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ADAMTS20

2-0219-004

chr12:
43758327-43758327

T

G

intronic

De novo

-

-

Yuen2017 G

ADAMTS20

SP0144155

chr12:
43858428-43858428

G

A

exonic

De novo

nonsynonymous SNV

NM_025003

c.C1475T

p.A492V

4.452

Fu2022 E

ADAMTS20

147-06-105672

chr12:
43823483-43823483

G

A

exonic

De novo

synonymous SNV

NM_025003

c.C3426T

p.T1142T

-

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
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