Variant Results

or

or

Results for "POTEE"

Variant Events: 11

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

POTEE

1-0558-003

chr2:
132011222-132011222

C

T

intronic

De novo

-

-

Yuen2017 G

POTEE

AU2793303

chr2:
131986998-131986998

A

C

intronic

De novo

-

-

Yuen2017 G

POTEE

SP0057357

chr2:
131975929-131975929

A

G

UTR5

De novo

-

-

Fu2022 E

POTEE

SP0069673

chr2:
132022061-132022061

C

T

exonic

De novo

synonymous SNV

NM_001083538

c.C3033T

p.H1011H

-

-

Fu2022 E

POTEE

AU2248301

chr2:
131982801-131982801

G

T

intronic

De novo

-

-

Yuen2017 G

POTEE

AU4122301

chr2:
132030088-132030088

G

A

intergenic

De novo

-

-

Yuen2017 G

POTEE

NDAR_INVTJ060WMN_wes1

chr2:
132021818-132021818

G

A

exonic

De novo

synonymous SNV

NM_001083538

c.G2790A

p.A930A

-

Lim2017 E

POTEE

AU4122301

chr2:
132030113-132030113

G

T

intergenic

De novo

-

-

Yuen2017 G

POTEE

2-1155-003

chr2:
132029887-132029887

G

C

intergenic

De novo

-

-

Yuen2017 G

POTEE

1-0627-007

chr2:
132021542-132021542

C

T

exonic

De novo

synonymous SNV

NM_001083538

c.C2514T

p.A838A

-

Yuen2017 G
Zhou2022 GE

POTEE

ASC_CA_197_A

chr2:
131985839-131985839

T

G

exonic

De novo

nonsynonymous SNV

NM_001083538

c.T940G

p.C314G

11.38

-

Fu2022 E

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
	More