All variants in the OXCT1 gene

Information The variants shown are described using the NM_000436.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.1402C>T r.(?) p.(Arg468Cys) ACMG pathogenic g.41749646G>A g.41749544G>A - - OXCT1_000003 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
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