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     
+/. 13i c.1248+5G>A r.1100_1248del p.Lys368Glufs*34 - pathogenic g.41794100C>T g.41793998C>T - - OXCT1_000001 - - - - Germline - - - 0 - Toshiyuki Fukao
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