Variant Results

or

Results for "ASTN2"

Variant Events: 58

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

ASTN2

1-0184-003

chr9:
120249523-120249526

CTAT

CT

intergenic

De novo

-

Yuen2017 G

ASTN2

1-0253-004

chr9:
120108119-120108119

T

C

intronic

De novo

-

Yuen2017 G

ASTN2

1-0296-004

chr9:
119469082-119469082

C

T

intronic

De novo

-

Yuen2017 G

ASTN2

2-0144-004

chr9:
119431268-119431268

C

CTGT

intronic

De novo

-

Yuen2017 G

ASTN2

2-1480-003

chr9:
119868728-119868728

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ASTN2

A18

chr9:
120062228-120062228

A

G

intronic

De novo

-

Wu2018 G

ASTN2

AU4015302

chr9:
120357029-120357029

G

T

intergenic

De novo

-

Yuen2017 G

ASTN2

7-0129-003

chr9:
119916957-119916961

TAAAA

TAAAAA

intronic

De novo

-

Yuen2017 G

ASTN2

2-0319-003

chr9:
119895486-119895489

TAAC

T

intronic

De novo

-

Yuen2017 G

ASTN2

7-0223-003

chr9:
119867773-119867773

T

C

intronic

De novo

-

Yuen2017 G

ASTN2

Viggiano2022:22.3

chr9:
119737512-119737512

C

T

exonic

Paternal

nonsynonymous SNV

NM_014010

c.G1711A

p.V571I

19.94

1.0E-4

Viggiano2022 GT

ASTN2

1-0019-004

chr9:
120336993-120336993

G

A

intergenic

De novo

-

Yuen2017 G

ASTN2

2-1176-003

chr9:
119979568-119979568

G

A

intronic

De novo

-

Yuen2017 G

ASTN2

Viggiano2022:22.4

chr9:
119737512-119737512

C

T

exonic

Paternal

nonsynonymous SNV

NM_014010

c.G1711A

p.V571I

19.94

1.0E-4

Viggiano2022 GT

ASTN2

2-0135-003

chr9:
119254955-119254955

T

C

intronic

De novo

-

Yuen2017 G

ASTN2

2-1511-003

chr9:
119368720-119368735

AAGAGAGAGAGAGAGA

AAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

ASTN2

5-0003-004

chr9:
119649677-119649677

G

T

intronic

De novo

-

Yuen2017 G

ASTN2

13649.p1

chr9:
119817040-119817040

A

G

intronic

De novo

-

Turner2016 G

ASTN2

1-0139-005

chr9:
120302810-120302810

T

A

intergenic

De novo

-

Yuen2017 G

ASTN2

2-1134-003

chr9:
120351217-120351217

A

G

intergenic

De novo

-

Yuen2017 G

ASTN2

2-1487-003

chr9:
120382278-120382278

C

T

intergenic

De novo

-

Yuen2017 G

ASTN2

AU2950301

chr9:
119233494-119233494

G

C

intronic

De novo

-

Yuen2017 G

ASTN2

2-0012-004

chr9:
119373268-119373268

A

C

UTR3

De novo

-

Yuen2017 G

ASTN2

2-1308-003

chr9:
119889215-119889215

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ASTN2

AU063004

chr9:
119465586-119465586

C

T

intronic

De novo

-

Yuen2017 G

ASTN2

AU4129303

chr9:
119732779-119732779

C

G

intronic

De novo

-

Yuen2017 G

ASTN2

A4

chr9:
119752105-119752105

C

T

intronic

De novo

-

Wu2018 G

ASTN2

AU2569303

chr9:
119346225-119346225

C

T

intronic

De novo

-

Yuen2017 G

ASTN2

AU3605303

chr9:
119607355-119607355

C

T

intronic

De novo

-

Yuen2017 G

ASTN2

2-1567-004

chr9:
120150702-120150702

A

G

intronic

De novo

-

Yuen2017 G

ASTN2

2-1391-003

chr9:
119885681-119885681

A

G

intronic

De novo

-

Yuen2017 G

ASTN2

1-0720-003

chr9:
119231325-119231325

C

T

intronic

De novo

-

Yuen2017 G

ASTN2

1-0325-003

chr9:
119666617-119666617

C

T

intronic

De novo

-

Yuen2017 G

ASTN2

1-0125-003

chr9:
119608398-119608398

A

G

intronic

De novo

-

Yuen2017 G

ASTN2

2-0068-003

chr9:
119813199-119813199

C

T

intronic

De novo

-

Yuen2017 G

ASTN2

2-1425-003

chr9:
120240131-120240131

A

C

intergenic

De novo

-

Yuen2017 G

ASTN2

AU1698301

chr9:
119438686-119438686

G

A

intronic

De novo

-

Yuen2017 G

ASTN2

AU039305

chr9:
119373841-119373841

T

C

UTR3

De novo

-

Yuen2017 G

ASTN2

1-0497-003

chr9:
119726597-119726597

C

T

intronic

De novo

-

Yuen2017 G

ASTN2

1-0683-003

chr9:
120220845-120220845

C

T

intergenic

De novo

-

Yuen2017 G

ASTN2

1-0052-003

chr9:
120038186-120038186

A

G

intronic

De novo

-

Yuen2017 G

ASTN2

2-1170-003

chr9:
119969570-119969570

G

T

intronic

De novo

-

Yuen2017 G

ASTN2

SP0098425

chr9:
119625827-119625827

G

T

intronic

De novo

-

Fu2022 E

ASTN2

1-0665-003

chr9:
119949940-119949940

G

A

intronic

De novo

-

Yuen2017 G

ASTN2

5-0110-003

chr9:
119547092-119547092

C

A

intronic

De novo

-

Yuen2017 G

ASTN2

AU3635301

chr9:
119218097-119218097

G

A

intronic

De novo

-

Yuen2017 G

ASTN2

1-0180-004

chr9:
119919395-119919396

TG

T

intronic

De novo

-

Yuen2017 G

ASTN2

AU3371302

chr9:
120245042-120245042

C

T

intergenic

De novo

-

Yuen2017 G

ASTN2

1-0405-003

chr9:
119360313-119360313

C

A

intronic

De novo

-

Yuen2017 G

ASTN2

1-0546-003

chr9:
120381450-120381450

G

T

intergenic

De novo

-

Yuen2017 G

ASTN2

GEA363

chr9:
119413818-119413818

C

T

exonic

De novo

nonsynonymous SNV

NM_001184734
NM_001184735
NM_198186
NM_198187
NM_198188
NM_014010

c.G217A
c.G217A
c.G364A
c.G217A
c.G217A
c.G2908A

p.G73S
p.G73S
p.G122S
p.G73S
p.G73S
p.G970S

15.17

-

Fu2022 E

ASTN2

3-0446-000

chr9:
119190886-119190886

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ASTN2

5-0129-003

chr9:
120337247-120337248

AC

A

intergenic

De novo

-

Yuen2017 G

ASTN2

AU069603

chr9:
119833871-119833871

G

A

intronic

De novo

-

Yuen2017 G

ASTN2

1-0595-004

chr9:
119631374-119631374

G

A

intronic

De novo

-

Yuen2017 G

ASTN2

AU4060306

chr9:
120319890-120319890

T

C

intergenic

De novo

-

Yuen2017 G

ASTN2

AU056204

chr9:
119219515-119219515

T

C

intronic

De novo

-

Yuen2017 G

ASTN2

AU3782303

chr9:
119532702-119532702

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
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