Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 29/08/2006
Symbol PBT1
Location 4q12
HGNC id 8631
Name piebald trait 1
Other name(s) piebaldism
Corresponding gene KIT
Other symbol(s) PBTCR, PBT
Main clinical features with/without neurosensory deafness, homolog to dominant spotting in mouse
Genetic determination
Function/system disorder dermatology
Gene product
Name kit oncogene (KIT)