PMID: 29774366

CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.

Acta dermato-venereologica
F Karagianni, CN Njauw, KP Kypreou, A Stergiopoulou, M Plaka, D Polydorou, V Chasapi, L Pappas, IA Stratigos, G Champsas, P Panagiotou, H Gogas, E Evangelou, H Tsao, AJ Stratigos, I Stefanaki
2018-10-10

23 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-21971056-C-T CDKN2A c.302G>A p.Gly101Glu Missense 2/3 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
9-21974756-C-G CDKN2A c.71G>C p.Arg24Pro Missense 1/3 -
12-58145431-G-A CDK4 c.70C>T p.Arg24Cys Missense 2/8 -
9-21971028-C-G CDKN2A c.330G>C p.Trp110Cys Missense 2/3 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
12-58145430-C-T CDK4 c.71G>A p.Arg24His Missense 2/8 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
9-21971029-C-T CDKN2A c.329G>A p.Trp110* Nonsense 2/3 -
9-21971099-G-A CDKN2A c.259C>T p.Arg87Trp Missense 2/3 -
9-21974784-CAGT-C CDKN2A c.41_43delACT p.Asp14_trp15delinsGly MultiAAMissense 1/3 -
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
9-21971028-C-T CDKN2A c.330G>A p.Trp110* Nonsense 2/3 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
9-21971057-C-G CDKN2A c.301G>C p.Gly101Arg Missense 2/3 -
9-21970916-C-T CDKN2A c.442G>A p.Ala148Thr Missense 2/3 -
9-21974762-CC-C CDKN2A c.68delG p.Gly23Valfs*3 Frameshift 1/3 -