Variant Results

or

Results for "OTOGL"

Variant Events: 21

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

OTOGL

13641.p1

chr12:
80615889-80615889

G

A

exonic

De novo

nonsynonymous SNV

NM_173591

c.G326A

p.G109D

11.81

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

OTOGL

1-0180-004

chr12:
80770618-80770624

TGTGGAA

T

intronic

De novo

-

Yuen2017 G

OTOGL

13845.p1

chr12:
80714426-80714426

T

C

exonic

De novo

nonsynonymous SNV

NM_173591

c.T4000C

p.S1334P

13.48

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

OTOGL

iHART2743

chr12:
80690660-80690660

C

CA

exonic

Maternal

frameshift insertion

NM_173591

c.2956dupA

p.D985fs

-

5.312E-5

Ruzzo2019 G

OTOGL

2-0145-003

chr12:
80777025-80777037

ACATATATTTCTG

A

intergenic

De novo

-

Yuen2017 G

OTOGL

AU3862305

chr12:
80815266-80815275

GTGTTTGTTT

GTGTTT

intergenic

De novo

-

Yuen2017 G

OTOGL

1-0126-003

chr12:
80791539-80791539

A

AT

intergenic

De novo

-

Yuen2017 G

OTOGL

1-0144-004

chr12:
80777025-80777037

ACATATATTTCTG

A

intergenic

De novo

-

Yuen2017 G

OTOGL

1-0986-003

chr12:
80619890-80619890

C

T

intronic

De novo

-

Yuen2017 G

OTOGL

AU2075301

chr12:
80641386-80641386

G

A

intronic

De novo

-

Yuen2017 G

OTOGL

11011.p1

chr12:
80752165-80752165

G

A

intronic

Mosaic

-

Dou2017 E

OTOGL

2-1137-003

chr12:
80659813-80659813

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OTOGL

AU4235303

chr12:
80649684-80649684

C

G

intronic

De novo

-

Yuen2017 G

OTOGL

AU3811305

chr12:
80679828-80679828

C

T

intronic

De novo

-

Yuen2017 G

OTOGL

1-0384-003

chr12:
80731387-80731387

T

C

intronic

De novo

-

Yuen2017 G

OTOGL

5-0015-003

chr12:
80747094-80747094

A

C

intronic

De novo

-

Yuen2017 G

OTOGL

1-0373-003

chr12:
80699374-80699374

T

C

exonic

De novo

nonsynonymous SNV

NM_173591

c.T3205C

p.C1069R

19.12

-

Yuen2017 G

OTOGL

2-1220-003

chr12:
80786836-80786836

G

A

intergenic

De novo

-

Yuen2016 G

OTOGL

1-0995-003

chr12:
80804073-80804093

AAATAATAATAATAATAATAA

AAATAATAATAATAATAA

intergenic

De novo

-

Yuen2017 G

OTOGL

2-0285-004

chr12:
80714729-80714729

A

T

intronic

De novo

-

Yuen2017 G

OTOGL

SSC08754

chr12:
80714426-80714426

T

C

exonic

De novo

nonsynonymous SNV

NM_173591

c.T4000C

p.S1334P

13.48

-

Lim2017 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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