Unique 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.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

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     
+/+? 1 3 c.267C>A r.(267c>a) p.(Asn89Lys) - pathogenic g.126097467G>T g.124408898G>T 267C>A - OAT_000034 Finnish mutation PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+?, +/. 2 10 c.1205T>C r.(1205u>c), r.1205u>c p.(Leu402Pro), p.Leu402Pro - pathogenic g.126086626A>G g.124398057A>G 1205T>C - OAT_000016 14 Finnish families (hom). Finnish major mutation. Mutant OAT protein was inactive., 1 more item PubMed: Mitchell 1989, PubMed: Mitchell 1989, PubMed: Brody 1992 - - Germline yes 0/19 FIN CON - - - Anne Polvi
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