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GENATLAS PHENOTYPE

last update : 21/02/07

Symbol	CMM3
Location	12q14.1
Name	hereditary malignant melanoma
Corresponding gene	CDK4
Main clinical features	cutaneous melanoma
Genetic determination	autosomal dominant
Related entries	CMM1, CMM2, CMM4, FAMMMPC, MNST
Function/system disorder	dermatology
	neoplasia
Type	susceptibility factor

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			germline mutations R24H, R24C

Remark(s)