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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.p1chr12:
80615889-80615889
GAexonicDe novononsynonymous SNVNM_173591c.G326Ap.G109D11.81-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
OTOGL     1-0180-004chr12:
80770618-80770624
TGTGGAATintronicDe novo--Yuen2017 G
OTOGL     13845.p1chr12:
80714426-80714426
TCexonicDe novononsynonymous SNVNM_173591c.T4000Cp.S1334P13.48-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
OTOGL     iHART2743chr12:
80690660-80690660
CCAexonicMaternalframeshift insertionNM_173591c.2956dupAp.D985fs-5.312E-5Ruzzo2019 G
OTOGL     2-0145-003chr12:
80777025-80777037
ACATATATTTCTGAintergenicDe novo--Yuen2017 G
OTOGL     AU3862305chr12:
80815266-80815275
GTGTTTGTTTGTGTTTintergenicDe novo--Yuen2017 G
OTOGL     1-0126-003chr12:
80791539-80791539
AATintergenicDe novo--Yuen2017 G
OTOGL     1-0144-004chr12:
80777025-80777037
ACATATATTTCTGAintergenicDe novo--Yuen2017 G
OTOGL     1-0986-003chr12:
80619890-80619890
CTintronicDe novo--Yuen2017 G
OTOGL     AU2075301chr12:
80641386-80641386
GAintronicDe novo--Yuen2017 G
OTOGL     11011.p1chr12:
80752165-80752165
GAintronicMosaic--Dou2017 E
OTOGL     2-1137-003chr12:
80659813-80659813
GCintronicDe novo--Yuen2016 G
Yuen2017 G
OTOGL     AU4235303chr12:
80649684-80649684
CGintronicDe novo--Yuen2017 G
OTOGL     AU3811305chr12:
80679828-80679828
CTintronicDe novo--Yuen2017 G
OTOGL     1-0384-003chr12:
80731387-80731387
TCintronicDe novo--Yuen2017 G
OTOGL     5-0015-003chr12:
80747094-80747094
ACintronicDe novo--Yuen2017 G
OTOGL     1-0373-003chr12:
80699374-80699374
TCexonicDe novononsynonymous SNVNM_173591c.T3205Cp.C1069R19.12-Yuen2017 G
OTOGL     2-1220-003chr12:
80786836-80786836
GAintergenicDe novo--Yuen2016 G
OTOGL     1-0995-003chr12:
80804073-80804093
AAATAATAATAATAATAATAAAAATAATAATAATAATAAintergenicDe novo--Yuen2017 G
OTOGL     2-0285-004chr12:
80714729-80714729
ATintronicDe novo--Yuen2017 G
OTOGL     SSC08754chr12:
80714426-80714426
TCexonicDe novononsynonymous SNVNM_173591c.T4000Cp.S1334P13.48-Lim2017 E
Source Variant Information

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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 notesView
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