| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common/normal
|
| (C;G)
|
5
|
Malignant melanoma predisposing mutation
|
rs777948908, also known as c.106G>C and Ala36Pro as named in papers, represents a rare mutation in the CDKN2A gene on chromosome 9. Note though that the mutation is named based on minus strand orientation, but in dbSNP, the RefSNP orientation is the plus strand, and to make this even more complex, the mutation reported in the paper cited below is the Ala36Pro (G>C) variant rather than the Ala36Ser (G>T) variant referenced in dbSNP.
The rs777948908(G) allele - in plus strand orientation! - is considered pathogenic in a dominant manner for malignant melanoma, based on sources in ClinVar and elsewhere. CDKN2A mutations may also predispose to other types of cancer.[PMID 12072543
],[PMID 16234564]
],[PMID 16234564
