Variant Results

or

Results for "ASB4"

Variant Events: 12

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

ASB4

1-1148-003

chr7:
95129418-95129419

TG

T

intronic

De novo

-

Trost2022 G

ASB4

SP0090669

chr7:
95166943-95166943

A

G

exonic

De novo

nonsynonymous SNV

NM_016116

c.A1153G

p.M385V

12.46

-

Trost2022 G

ASB4

AU3984301

chr7:
95198330-95198330

G

A

intergenic

De novo

-

Yuen2017 G

ASB4

4-0073-003

chr7:
95121560-95121562

CAC

ATA

intronic

De novo

-

Trost2022 G

ASB4

1-0595-004

chr7:
95182129-95182129

G

A

intergenic

De novo

-

Yuen2017 G

ASB4

AU049304

chr7:
95159838-95159838

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASB4

1-0300-004

chr7:
95125761-95125761

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ASB4

SP0103783

chr7:
95125093-95125093

T

A

exonic

De novo

nonsynonymous SNV

NM_016116
NM_145872

c.T211A
c.T211A

p.L71M
p.L71M

11.54

-

Fu2022 E
Trost2022 G

ASB4

SP0077956

chr7:
95165836-95165836

A

T

exonic

De novo

stopgain

NM_016116

c.A1066T

p.R356X

22.1

8.294E-6

Fu2022 E

ASB4

DEASD_0382_001

chr7:
95157379-95157379

C

T

exonic

De novo

stopgain

NM_016116
NM_145872

c.C742T
c.C742T

p.R248X
p.R248X

24.7

-

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

ASB4

AU3777302

chr7:
95144506-95144506

T

A

intronic

De novo

-

Yuen2017 G

ASB4

11341.p1

chr7:
95180956-95180956

C

A

intergenic

De novo

-

Turner2016 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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