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Results for "SELENOO"

Variant Events: 8

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
SELENOO     111292chr22:
50644829-50644829
CAexonicunknown22.18.338E-6Woodbury-Smith2022 E
SELENOO     SP0112172chr22:
50640026-50640026
CTintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
SELENOO     MSSNG00406-003chr22:
50644857-50644857
CAexonicDe novounknown--Trost2022 G
Zhou2022 GE
SELENOO     SP0065193chr22:
50639376-50639376
ACupstreamDe novo--Fu2022 E
SELENOO     2-1430-003Achr22:
50651186-50651186
TCintronicDe novo--Trost2022 G
SELENOO     3C579chr22:
50654170-50654170
AGexonicDe novounknown7.452-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SELENOO     SP0212297chr22:
50649184-50649184
CTexonicDe novounknown--Trost2022 G
SELENOO     5-0024-003chr22:
50645365-50645365
AGintronicDe novo--Trost2022 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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