Variant Results

or

or

Results for "ADAMTS9"

Variant Events: 24

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

ADAMTS9

1-0265-003

chr3:
64653963-64653963

G

C

intronic

De novo

-

-

Yuen2017 G

ADAMTS9

7-0140-003

chr3:
64617659-64617665

AAATAAT

AAAT

intronic

De novo

-

-

Yuen2017 G

ADAMTS9

14490.p1

Complex Event; expand row to view variants

De novo

stopgain, synonymous SNV

NM_182920
NM_182920

c.C4543T
c.C4542A

p.R1515X
p.G1514G

48.0

-

Iossifov2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

ADAMTS9

SP0048085

chr3:
64619246-64619246

C

G

exonic

De novo

nonsynonymous SNV

NM_182920

c.G2077C

p.A693P

22.0

-

Fu2022 E

ADAMTS9

12820.p1

chr3:
64666926-64666926

G

A

exonic

De novo

synonymous SNV

NM_182920

c.C630T

p.S210S

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ADAMTS9

SP0026391

chr3:
64524911-64524911

C

G

exonic

De novo

nonsynonymous SNV

NM_182920

c.G5581C

p.G1861R

28.0

-

Fu2022 E

ADAMTS9

1-0433-003

chr3:
64672513-64672513

A

T

exonic

De novo

nonsynonymous SNV

NM_182920

c.T247A

p.W83R

11.5

-

Yuen2015 G

ADAMTS9

AU3343301

chr3:
64504690-64504690

G

C

intronic

De novo

-

-

Yuen2017 G

ADAMTS9

AU4159301

chr3:
64603988-64603988

G

A

intronic

De novo

-

-

Yuen2017 G

ADAMTS9

A3

chr3:
64656107-64656107

T

C

intronic

De novo

-

-

Wu2018 G

ADAMTS9

SP0050968

chr3:
64587845-64587845

C

T

exonic

De novo

nonsynonymous SNV

NM_182920

c.G3792A

p.M1264I

7.567

Fu2022 E

ADAMTS9

SP0028445

chr3:
64587720-64587720

T

G

exonic

De novo

nonsynonymous SNV

NM_182920

c.A3917C

p.Q1306P

9.725

-

Fu2022 E

ADAMTS9

SP0010751

chr3:
64536533-64536533

T

G

intronic

De novo

-

-

Fu2022 E

ADAMTS9

SP0093105

chr3:
64635418-64635418

T

C

exonic

De novo

synonymous SNV

NM_182920

c.A1500G

p.E500E

-

-

Fu2022 E

ADAMTS9

1-0511-003

chr3:
64660604-64660604

G

A

intronic

De novo

-

-

Yuen2017 G

ADAMTS9

12360.p1

chr3:
64666926-64666926

G

A

exonic

De novo

synonymous SNV

NM_182920

c.C630T

p.S210S

-

Krumm2015 E

ADAMTS9

DEASD_1023_001

chr3:
64601793-64601793

C

T

exonic

De novo

nonsynonymous SNV

NM_182920

c.G2867A

p.R956H

23.1

Satterstrom2020 E

ADAMTS9

2-0223-004

chr3:
64536720-64536720

C

T

exonic

De novo

nonsynonymous SNV

NM_182920

c.G4717A

p.E1573K

12.48

Yuen2015 G
Yuen2017 G

ADAMTS9

1-0265-004

chr3:
64653963-64653963

G

C

intronic

De novo

-

-

Yuen2017 G

ADAMTS9

1398_18au

chr3:
64641387-64641387

A

G

intronic

De novo

-

-

Fu2022 E

ADAMTS9

12820_p1

chr3:
64666926-64666926

G

A

exonic

De novo

synonymous SNV

NM_182920

c.C630T

p.S210S

-

Fu2022 E

ADAMTS9

SSC11511

chr3:
64547409-64547409

G

A

exonic

De novo

stopgain

NM_182920

c.C4543T

p.R1515X

48.0

-

Fu2022 E

ADAMTS9

1-0898-003

chr3:
64512378-64512378

G

T

intronic

De novo

-

-

Yuen2017 G

ADAMTS9

AU4476302

chr3:
64646588-64646588

C

T

intronic

De novo

-

-

Yuen2017 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	View
	More