POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Precocious pubarche ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768768839
rs768768839
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0342541
Disease:
Precocious pubarche 		0.010 GeneticVariation BEFREE By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis. 15126570 2004