Variant Results

or

Results for "ADAMTS18"

Variant Events: 52

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

ADAMTS18

3-0432-000

chr16:
77667361-77667361

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADAMTS18

2-1330-003

chr16:
77543487-77543487

G

A

intergenic

De novo

-

Yuen2017 G

ADAMTS18

2-1239-003

chr16:
77404332-77404332

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADAMTS18

A2

chr16:
77389727-77389727

T

C

intronic

De novo

-

Wu2018 G

ADAMTS18

1-0493-003

chr16:
77428251-77428251

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADAMTS18

PN400230

chr16:
77328886-77328886

G

C

exonic

De novo

synonymous SNV

NM_199355

c.C2940G

p.P980P

-

Leblond2019 E

ADAMTS18

7-0416-003

chr16:
77401606-77401606

C

G

exonic

nonsynonymous SNV

NM_199355

c.G510C

p.R170S

15.88

-

Zhou2022 GE

ADAMTS18

1-0051-004

chr16:
77549494-77549494

G

C

intergenic

De novo

-

Yuen2017 G

ADAMTS18

PN400410

chr16:
77328966-77328966

G

A

exonic

Unknown

stopgain

NM_199355

c.C2860T

p.R954X

44.0

-

Leblond2019 E

ADAMTS18

13617.p1

chr16:
77326983-77326983

G

A

exonic

nonsynonymous SNV

NM_199355

c.C3179T

p.S1060L

12.98

3.0E-4

Zhou2022 GE

ADAMTS18

5-0045-003

chr16:
77604408-77604408

A

C

intergenic

De novo

-

Yuen2017 G

ADAMTS18

AU4376301

chr16:
77463543-77463543

C

T

intronic

De novo

-

Yuen2017 G

ADAMTS18

1-0640-003

chr16:
77499690-77499690

C

T

intergenic

De novo

-

Yuen2017 G

ADAMTS18

AU2711303

chr16:
77421966-77421966

C

T

intronic

De novo

-

Yuen2017 G

ADAMTS18

1-0835-003

chr16:
77660605-77660605

T

C

intergenic

De novo

-

Yuen2017 G

ADAMTS18

7-0135-003

chr16:
77457439-77457439

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADAMTS18

1-0640-003

chr16:
77520093-77520093

C

G

intergenic

De novo

-

Yuen2017 G

ADAMTS18

1-0640-003

chr16:
77518663-77518663

C

G

intergenic

De novo

-

Yuen2017 G

ADAMTS18

5-0054-003

chr16:
77457936-77457936

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADAMTS18

MSSNG00401-003

chr16:
77360566-77360566

C

T

intronic

De novo

-

Trost2022 G

ADAMTS18

2-1417-003

chr16:
77460412-77460412

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADAMTS18

7-0416-003

chr16:
77380337-77380337

C

G

intronic

De novo

-

Trost2022 G

ADAMTS18

7-0095-003

chr16:
77328355-77328355

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADAMTS18

SP0234151

chr16:
77317843-77317843

G

A

UTR3

De novo

-

Trost2022 G

ADAMTS18

1-0559-004

chr16:
77324880-77324881

GC

AGACTCG

intronic

De novo

-

Trost2022 G

ADAMTS18

iHART1220

chr16:
77356317-77356317

A

AAATT

exonic

Maternal

frameshift insertion

NM_199355

c.2078_2079insAATT

p.F693fs

-

Ruzzo2019 G

ADAMTS18

7-0416-003

chr16:
77402373-77402373

C

T

intronic

De novo

-

Trost2022 G

ADAMTS18

mAGRE1221

chr16:
77356317-77356317

A

AAATT

exonic

Maternal

frameshift insertion

NM_199355

c.2078_2079insAATT

p.F693fs

-

Cirnigliaro2023 G

ADAMTS18

iHART1221

chr16:
77356317-77356317

A

AAATT

exonic

Maternal

frameshift insertion

NM_199355

c.2078_2079insAATT

p.F693fs

-

Ruzzo2019 G

ADAMTS18

1-1135-003

chr16:
77414668-77414668

G

A

intronic

De novo

-

Trost2022 G

ADAMTS18

mAGRE1220

chr16:
77356317-77356317

A

AAATT

exonic

Maternal

frameshift insertion

NM_199355

c.2078_2079insAATT

p.F693fs

-

Cirnigliaro2023 G

ADAMTS18

7-0416-003

chr16:
77397857-77397857

C

G

intronic

De novo

-

Trost2022 G

ADAMTS18

F10382-1

chr16:
77354932-77354932

A

C

intronic

De novo

-

4.119E-5

Satterstrom2020 E
Trost2022 G

ADAMTS18

7-0416-003

chr16:
77400176-77400176

C

T

intronic

De novo

-

Trost2022 G

ADAMTS18

AU2023302

chr16:
77404168-77404168

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADAMTS18

Lim2017:35938

chr16:
77327129-77327129

C

T

exonic

De novo

synonymous SNV

NM_199355

c.G3033A

p.V1011V

-

Lim2017 E

ADAMTS18

1031

chr16:
77386571-77386583

GAAAGAGGAGGAA

G

intronic

De novo

-

Trost2022 G

ADAMTS18

13118.p1

chr16:
77327129-77327129

C

T

exonic

De novo

synonymous SNV

NM_199355

c.G3033A

p.V1011V

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ADAMTS18

7-0416-003

chr16:
77397855-77397855

G

T

intronic

De novo

-

Trost2022 G

ADAMTS18

AU4072303

chr16:
77569387-77569387

C

T

intergenic

De novo

-

Yuen2017 G

ADAMTS18

7-0416-003

chr16:
77381102-77381102

C

G

intronic

De novo

-

Trost2022 G

ADAMTS18

7-0416-003

chr16:
77385714-77385714

C

G

intronic

De novo

-

Trost2022 G

ADAMTS18

5-0100-003

chr16:
77467405-77467405

C

G

intronic

De novo

-

Trost2022 G

ADAMTS18

MSSNG00366-003

chr16:
77447834-77447834

T

C

intronic

De novo

-

Trost2022 G

ADAMTS18

JASD_Fam0112

chr16:
77325261-77325261

G

GTTTC

exonic

De novo

frameshift insertion

NM_199355

c.3303_3304insGAAA

p.P1102fs

-

Takata2018 E

ADAMTS18

3-0519-000

chr16:
77452305-77452305

C

T

intronic

De novo

-

Trost2022 G

ADAMTS18

216287

chr16:
77416175-77416175

T

C

intronic

De novo

-

Trost2022 G

ADAMTS18

1-0903-004

chr16:
77442690-77442690

T

G

intronic

De novo

-

Trost2022 G

ADAMTS18

1-0490-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

ADAMTS18

SP0061153

chr16:
77369788-77369788

C

T

exonic

De novo

nonsynonymous SNV

NM_199355

c.G1724A

p.G575D

34.0

-

Fu2022 E
Zhou2022 GE

ADAMTS18

35938

chr16:
77327129-77327129

C

T

exonic

De novo

synonymous SNV

NM_199355

c.G3033A

p.V1011V

-

Fu2022 E
Trost2022 G

ADAMTS18

SP0123987

chr16:
77398026-77398026

G

C

intronic

De novo

-

Fu2022 E
Trost2022 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
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