Variant Results

or

or

Results for "ASAP2"

Variant Events: 23

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

ASAP2

2-0122-003

chr2:
9379517-9379517

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ASAP2

2-1196-003

chr2:
9489429-9489429

A

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ASAP2

7-0249-003

chr2:
9359855-9359855

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ASAP2

2-1429-003

chr2:
9465530-9465530

A

G

intronic

De novo

-

-

Yuen2017 G

ASAP2

SP0072877

chr2:
9514903-9514903

A

G

exonic

De novo

nonsynonymous SNV

NM_001135191
NM_003887

c.A1576G
c.A1576G

p.I526V
p.I526V

29.3

Fu2022 E
Trost2022 G
Zhou2022 GE

ASAP2

SP0131636

chr2:
9508540-9508540

T

C

intronic

De novo

-

-

Fu2022 E

ASAP2

09C84797

chr2:
9467956-9467956

A

G

exonic

De novo

nonsynonymous SNV

NM_001135191
NM_003887

c.A602G
c.A602G

p.Y201C
p.Y201C

23.1

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ASAP2

2-1727-003

chr2:
9393125-9393129

CTATT

C

intronic

De novo

-

-

Trost2022 G

ASAP2

1-1040-004

chr2:
9373241-9373241

C

A

intronic

De novo

-

-

Trost2022 G

ASAP2

SJD_14.3

chr2:
9427535-9427535

G

A

intronic

De novo

-

-

Trost2022 G

ASAP2

4-0062-003

chr2:
9424708-9424710

AGG

TTT

intronic

De novo

-

-

Trost2022 G

ASAP2

1-1045-003

chr2:
9368711-9368711

C

T

intronic

De novo

-

-

Trost2022 G

ASAP2

2-1231-003

chr2:
9463296-9463296

A

T

exonic

De novo

nonsynonymous SNV

NM_001135191
NM_003887

c.A517T
c.A517T

p.M173L
p.M173L

18.33

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

ASAP2

SP0174304

chr2:
9347211-9347211

G

C

UTR5

De novo

-

-

Trost2022 G

ASAP2

mAGRE4842

chr2:
9525384-9525384

C

T

exonic

De novo

nonsynonymous SNV

NM_001135191
NM_003887

c.C2027T
c.C2027T

p.A676V
p.A676V

34.0

-

Cirnigliaro2023 G

ASAP2

10-1104-004

chr2:
9515045-9515045

C

T

exonic

De novo

nonsynonymous SNV

NM_001135191
NM_003887

c.C1718T
c.C1718T

p.T573M
p.T573M

10.1

Trost2022 G
Zhou2022 GE

ASAP2

MSSNG00106-003

chr2:
9504846-9504846

C

A

intronic

De novo

-

-

Trost2022 G

ASAP2

AU4079301

chr2:
9465802-9465802

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ASAP2

13942.p1

chr2:
9527215-9527215

C

G

intronic

De novo

-

-

Turner2016 G

ASAP2

2-0122-003

chr2:
9455100-9455100

G

A

intronic

De novo

-

-

Trost2022 G

ASAP2

7-0399-003

chr2:
9431024-9431024

A

G

intronic

De novo

-

-

Trost2022 G

ASAP2

1-0763-003

chr2:
9470905-9470905

C

A

intronic

De novo

-

-

Trost2022 G

ASAP2

7-0347-003

chr2:
9461038-9461038

C

T

intronic

De novo

-

-

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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