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Results for "OPA3"

Variant Events: 10

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
OPA3     MSSNG00002-003chr19:
46075611-46075613
CATCintronicDe novo--Trost2022 G
OPA3     SP0120159chr19:
46051915-46051915
TGUTR3De novo--Trost2022 G
OPA3     MSSNG00026-003chr19:
46036112-46036112
GAintronicDe novo--Trost2022 G
OPA3     5-5011-003chr19:
46034015-46034015
CGintronicDe novo--Trost2022 G
OPA3     AU050403chr19:
46043597-46043597
TCintronicDe novo--Trost2022 G
Yuen2017 G
OPA3     A23chr19:
46035029-46035029
GAintronicDe novo--Wu2018 G
OPA3     SP0130603chr19:
46056887-46056887
GAexonicDe novononsynonymous SNVNM_025136c.C425Tp.A142V11.9-Fu2022 E
Zhou2022 GE
OPA3     SP0053041chr19:
46053152-46053152
ACUTR3De novo--Fu2022 E
OPA3     13066.p1chr19:
46044827-46044827
GTintronicDe novo--Werling2018 G
OPA3     mAGRE4795chr19:
46032650-46032651
CTCexonicMaternalframeshift deletionNM_001017989c.206delAp.K69fs--Cirnigliaro2023 G
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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