Variant Results

or

Results for "OR6N2"

Variant Events: 14

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

OR6N2

2-1148-004

chr1:
158769714-158769714

C

A

intergenic

De novo

-

Yuen2017 G

OR6N2

12011.p1

chr1:
158774668-158774668

G

A

intergenic

De novo

-

Turner2016 G

OR6N2

5-0055-003

chr1:
158770929-158770933

TAGTC

T

intergenic

De novo

-

Yuen2017 G

OR6N2

11470.p1

Complex Event; expand row to view variants

De novo

synonymous SNV

NM_001005278
NM_001005278

c.A696G
c.A696T

p.S232S
p.S232S

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

OR6N2

2-1486-003

chr1:
158760920-158760920

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

OR6N2

AU2863302

chr1:
158783477-158783477

T

C

intergenic

De novo

-

Yuen2017 G

OR6N2

SSC02938

chr1:
158746730-158746730

T

C

exonic

De novo

synonymous SNV

NM_001005278

c.A696G

p.S232S

-

Fu2022 E
Lim2017 E
Trost2022 G

OR6N2

mAGRE3069

chr1:
158747154-158747154

G

GTT

exonic

Maternal

frameshift insertion

NM_001005278

c.271_272insAA

p.T91fs

-

1.0E-4

Cirnigliaro2023 G

OR6N2

5-0055-004

chr1:
158770929-158770933

TAGTC

T

intergenic

De novo

-

Yuen2017 G

OR6N2

REACH000714

chr1:
158748409-158748409

T

A

upstream

De novo

-

Trost2022 G

OR6N2

AU3729301

chr1:
158765677-158765677

G

A

intergenic

De novo

-

Yuen2017 G

OR6N2

1-0534-006

chr1:
158793180-158793180

C

T

intergenic

De novo

-

Yuen2017 G

OR6N2

AU3302302

chr1:
158799969-158799969

G

A

intergenic

De novo

-

Yuen2017 G

OR6N2

mAGRE5842

chr1:
158747154-158747154

G

GTT

exonic

Maternal

frameshift insertion

NM_001005278

c.271_272insAA

p.T91fs

-

1.0E-4

Cirnigliaro2023 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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