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Results for "OXCT1"

Variant Events: 20

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
OXCT1     7-0470-003chr5:
41741526-41741526
CAintronicDe novo--Trost2022 G
OXCT1     13798.p1chr5:
41850175-41850175
TCexonicMosaicnonsynonymous SNVNM_000436c.A521Gp.Y174C21.7-Krupp2017 E
OXCT1     3-0610-000chr5:
41761739-41761739
GTintronicDe novo--Trost2022 G
OXCT1     7-0429-003chr5:
41737828-41737828
TTAintronicDe novo--Trost2022 G
OXCT1     2-1562-004chr5:
41813042-41813043
AGAintronicDe novo--Trost2022 G
Yuen2017 G
OXCT1     2-1440-003chr5:
41845251-41845251
ACintronicDe novo--Trost2022 G
OXCT1     1-0161-004chr5:
41867931-41867932
CTTAintronicDe novo--Trost2022 G
OXCT1     7-0462-004chr5:
41808353-41808353
CTintronicDe novo--Trost2022 G
OXCT1     1-0255-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2016 G
Yuen2017 G
OXCT1     MSSNG00426-003chr5:
41831842-41831842
ATintronicDe novo--Trost2022 G
OXCT1     MSSNG00049-003chr5:
41774510-41774510
CTintronicDe novo--Trost2022 G
OXCT1     5-0028-003chr5:
41801435-41801435
CTintronicDe novo--Trost2022 G
OXCT1     1-0903-004chr5:
41769631-41769631
CCCTGGGCAATATAintronicDe novo--Trost2022 G
OXCT1     1-0903-003chr5:
41769631-41769631
CCCTGGGCAATATAintronicDe novo--Trost2022 G
OXCT1     SSC06698chr5:
41762252-41762252
CTexonicDe novosynonymous SNVNM_000436c.G1299Ap.A433A-8.239E-6Fu2022 E
Lim2017 E
Trost2022 G
OXCT1     Wang2023:898chr5:
41842799-41842799
GAexonicDe novostopgainNM_000436c.C649Tp.R217X38.08.24E-6Wang2023 E
OXCT1     13196.p1chr5:
41762252-41762252
CTexonicDe novosynonymous SNVNM_000436c.G1299Ap.A433A-8.239E-6Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
OXCT1     2-0022-004chr5:
41763662-41763662
CAintronicDe novo--Trost2022 G
Yuen2017 G
OXCT1     04C31726chr5:
41731867-41731867
TCexonicDe novosynonymous SNVNM_000436c.A1527Gp.S509S-1.237E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
OXCT1     2-1186-003chr5:
41808420-41808420
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 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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