Full data view for gene CDKN2A

Information The variants shown are described using the transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
+/+ 2 c.301G>T p.(Gly101Trp) Hetero N/A r.(?) - Unknown g.21971058C>A - CDKN2A_000001 - - DNA CNV, SEQ-NG 24-jan-2020 Fares Taie Panel 30 genes (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, MTHL1, PABL2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53) Multigenetic panel Melanoma, Pancreatic cancer Spanish-Italian - (antec. personales/explica cuadro) Melanoma, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
+/+ 2 c.301G>T p.(Gly101Trp) Hetero N/A r.(?) - Unknown g.21971058C>A - CDKN2A_000001 - - DNA SEQ-NG 14-sep-2020 Hospital Universitario Austral Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Multigenetic panel - Italian - - - 1 Maria Constanza Vallone-Hospital Austral
+/+ 2 c.334C>G p.(Arg112Gly) Hetero TP53 r.(334c>g) - Unknown g.21971025G>C - CDKN2A_000003 - - DNA SEQ-NG 29-mar-2021 Invitae Invitae Multi-cancer panel (85 genes) Multigenetic panel -- Italian/Italian - - - 1 Cecilia Montes-IMGO
-/- 2 c.442G>A p.(Ala148Thr) Hetero no r.(?) - Unknown g.21970917C>T - CDKN2A_000002 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
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