Variant Results

or

Results for "AASS"

Variant Events: 20

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

AASS

MSSNG00255-004

chr7:
121726927-121726927

C

T

intronic

De novo

-

Trost2022 G

AASS

MSSNG00255-005

chr7:
121726927-121726927

C

T

intronic

De novo

-

Trost2022 G

AASS

MSSNG00255-003

chr7:
121726927-121726927

C

T

intronic

De novo

-

Trost2022 G

AASS

2-1173-003

chr7:
121737423-121737423

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AASS

1-0150-004

chr7:
121904622-121904622

T

TTG

intergenic

De novo

-

Yuen2017 G

AASS

AU018010

chr7:
121737428-121737430

ATT

ATTTTTT

intronic

De novo

-

Yuen2017 G

AASS

AU3764302

chr7:
121873418-121873418

T

C

intergenic

De novo

-

Yuen2017 G

AASS

1-0402-004

chr7:
121902569-121902569

C

T

intergenic

De novo

-

Yuen2017 G

AASS

12793.p1

chr7:
121766464-121766464

C

A

exonic

De novo

nonsynonymous SNV

NM_005763

c.G437T

p.R146L

33.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Turner2016 G
Turner2017 G
Zhou2022 GE

AASS

3-0146-000

chr7:
121770443-121770443

T

G

intronic

De novo

-

Trost2022 G

AASS

2-0198-004

chr7:
121898202-121898202

G

A

intergenic

De novo

-

Yuen2017 G

AASS

2-0198-005

chr7:
121898202-121898202

G

A

intergenic

De novo

-

Yuen2017 G

AASS

3-0140-000

chr7:
121887948-121887948

G

A

intergenic

De novo

-

Yuen2017 G

AASS

AU3997301

chr7:
121729905-121729905

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AASS

mAGRE5347

chr7:
121755266-121755266

T

TA

exonic

Maternal

frameshift insertion

NM_005763

c.904dupT

p.Y302fs

-

Cirnigliaro2023 G

AASS

AU2427303

chr7:
121914581-121914581

A

T

intergenic

De novo

-

Yuen2017 G

AASS

12793_p1

chr7:
121766464-121766464

C

A

exonic

De novo

nonsynonymous SNV

NM_005763

c.G437T

p.R146L

33.0

-

Fu2022 E

AASS

2-1134-003

chr7:
121886768-121886768

G

A

intergenic

De novo

-

Yuen2017 G

AASS

2-0198-003

chr7:
121898202-121898202

G

A

intergenic

De novo

-

Yuen2017 G

AASS

2-1729-003

chr7:
121853232-121853232

A

G

intergenic

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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