Variant Results

or

Results for "ADAMTSL1"

Variant Events: 31

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

ADAMTSL1

1-0330-004

chr9:
18925522-18925522

T

TG

intergenic

De novo

-

Yuen2017 G

ADAMTSL1

SP0101760

chr9:
18777194-18777194

G

A

exonic

De novo

synonymous SNV

NM_001040272

c.G2967A

p.K989K

-

Fu2022 E

ADAMTSL1

2-1341-004

chr9:
18892945-18892945

C

G

intronic

De novo

-

Yuen2017 G

ADAMTSL1

13872.p1

chr9:
18721602-18721602

G

A

exonic

De novo

nonsynonymous SNV

NM_001040272

c.G1945A

p.V649M

19.21

5.77E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

ADAMTSL1

1-0871-003

chr9:
18898336-18898336

G

C

intronic

De novo

-

Yuen2017 G

ADAMTSL1

5-0026-003

chr9:
18825665-18825667

GAC

G

intronic

De novo

-

Yuen2017 G

ADAMTSL1

AU4033303

chr9:
18841348-18841348

C

T

intronic

De novo

-

Yuen2017 G

ADAMTSL1

1-0394-003

chr9:
18712119-18712119

A

G

intronic

De novo

-

Yuen2017 G

ADAMTSL1

AU1988302

chr9:
18841430-18841430

G

A

intronic

De novo

-

Yuen2017 G

ADAMTSL1

AU056003

chr9:
18853729-18853729

G

A

intronic

De novo

-

Yuen2017 G

ADAMTSL1

A15

chr9:
18694805-18694805

G

A

intronic

De novo

-

Wu2018 G

ADAMTSL1

14251.p1

chr9:
18829795-18829795

A

AGCCCTGT

intronic

De novo

-

Satterstrom2020 E

ADAMTSL1

SSC07798

chr9:
18622342-18622342

T

C

exonic

De novo

synonymous SNV

NM_001040272
NM_052866

c.T576C
c.T576C

p.Y192Y
p.Y192Y

-

Fu2022 E
Lim2017 E

ADAMTSL1

1-0452-003

chr9:
18488949-18488949

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADAMTSL1

AU3680302

chr9:
18579726-18579726

G

A

intronic

De novo

-

Yuen2017 G

ADAMTSL1

AU076705

chr9:
18623372-18623372

A

G

intronic

De novo

-

Yuen2017 G

ADAMTSL1

AU027506

chr9:
18676914-18676914

C

T

intronic

De novo

-

Yuen2017 G

ADAMTSL1

AU3051302

chr9:
18538809-18538809

C

A

intronic

De novo

-

Yuen2017 G

ADAMTSL1

1-0272-004

chr9:
18637297-18637297

C

A

intronic

De novo

-

Yuen2017 G

ADAMTSL1

1-0158-012

chr9:
18824668-18824668

C

T

intronic

De novo

-

Yuen2017 G

ADAMTSL1

2-1342-003

chr9:
18533302-18533302

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADAMTSL1

12620.p1

chr9:
18622342-18622342

T

C

exonic

De novo

synonymous SNV

NM_001040272
NM_052866

c.T576C
c.T576C

p.Y192Y
p.Y192Y

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ADAMTSL1

AU2863303

chr9:
18825694-18825694

C

T

intronic

De novo

-

Yuen2017 G

ADAMTSL1

5-0077-003

chr9:
18686195-18686195

A

G

intronic

De novo

-

Yuen2017 G

ADAMTSL1

5-0050-003

chr9:
18672641-18672641

A

C

intronic

De novo

-

Yuen2017 G

ADAMTSL1

1-0271-004

chr9:
18831037-18831037

A

G

intronic

De novo

-

Yuen2017 G

ADAMTSL1

2-1250-003

chr9:
18550616-18550616

G

C

intronic

De novo

-

Yuen2017 G

ADAMTSL1

AU3900301

chr9:
18715365-18715365

G

A

intronic

De novo

-

Yuen2017 G

ADAMTSL1

AU3912302

chr9:
18539460-18539460

C

T

intronic

De novo

-

Yuen2017 G

ADAMTSL1

2-1222-003

chr9:
18502383-18502383

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADAMTSL1

1-0324-003

chr9:
18708741-18708741

T

C

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