Variant Results

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or

Results for "OR2T1"

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

OR2T1

AU031404

chr1:
248608780-248608780

G

A

intergenic

De novo

-

-

Yuen2017 G

OR2T1

AU066206

chr1:
248581723-248581723

C

T

intergenic

De novo

-

-

Yuen2017 G

OR2T1

SSC09641

chr1:
248569659-248569659

A

G

exonic

De novo

nonsynonymous SNV

NM_030904

c.A364G

p.M122V

7.92

-

Fu2022 E
Lim2017 E
Trost2022 G

OR2T1

AU4056302

chr1:
248607223-248607223

G

C

intergenic

De novo

-

-

Yuen2017 G

OR2T1

AU1698301

chr1:
248609976-248609976

C

T

intergenic

De novo

-

-

Yuen2017 G

OR2T1

1-0609-003

chr1:
248596966-248596966

C

T

intergenic

De novo

-

-

Yuen2017 G

OR2T1

AU3397302

chr1:
248605608-248605610

GGT

GGTGT

intergenic

De novo

-

-

Yuen2017 G

OR2T1

AU2433303

chr1:
248609147-248609147

C

G

intergenic

De novo

-

-

Yuen2017 G

OR2T1

AU3721301

chr1:
248590028-248590028

A

G

intergenic

De novo

-

-

Yuen2017 G

OR2T1

10C107945

chr1:
248605011-248605011

C

A

intergenic

De novo

-

-

Fu2022 E

OR2T1

13939.p1

chr1:
248569659-248569659

A

G

exonic

De novo

nonsynonymous SNV

NM_030904

c.A364G

p.M122V

7.92

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 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
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