BAP1-related tumor predisposition syndrome ( Tumor susceptibility linked to germline BAP1 mutations )

It's a rare disease which normally occurs during adulthood, Its prevalence is unknown.
Transmission: Autosomal dominant
The gene involved is BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) ("BAP1")
Classified by:
IUPHAR ("2332")
ENSEMBL ("ENSG00000163930")
GENATLAS ("BAP1")
HGNC ("950")
OMIM ("603089")
UNIPROTKB/SWISSPROT ("Q92560")

Ultimo aggiornamento :
01-07-2014
Orphanumber :
289539
Credits: Orphanet

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