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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
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) |