All variants in the OAT gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000274.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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.? r.0 p.0 - likely pathogenic g.? g.? OAT partial deletion EcoRI frgment 5.7 kb to ~5kb - CYP2C9_001038 heterozygous; second allele unknown PubMed: Hotta 1989 - - Germline yes - - - - LOVD
+?/. - c.? r.0 p.0 - likely pathogenic g.? g.? OAT partial deletion EcoRI frgment ~5.4 Kbp; complete absence of mRNA - CYP2C9_001038 heterozygous PubMed: Inana 1988 - - Germline yes - - - - LOVD
+?/. - c.? r.0 p.0 - likely pathogenic g.? g.? OAT promoter ? - CYP2C9_001038 Northern 50% of expression, so probably a heterozygous mutation in the promoter or partial deletion PubMed: Mashima 1999 - - Germline ? - - - - LOVD
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.