Full data view for gene CDKN1C

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

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.15C>T r.(=) p.(=) Parent #2 g.2906705G>A - CDKN1C_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Larisa Evidrio, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.17T>C r.(?) p.(Leu6Pro) Parent #2 g.2906703A>G - CDKN1C_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Mandra - Greek no - 1 Despoina Kalfakakou
./. - c.17T>C r.(?) p.(Leu6Pro) Parent #2 g.2906703A>G - CDKN1C_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Skopelos Volos Greek no - 1 Despoina Kalfakakou
./. - c.17T>C r.(?) p.(Leu6Pro) Parent #2 g.2906703A>G - CDKN1C_000005 - - - - DNA SEQ-NG-I 1 F, PerCa - F Chalkida Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.17T>C r.(?) p.(Leu6Pro) Parent #2 g.2906703A>G - CDKN1C_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Epirus - Greek no - 1 Despoina Kalfakakou
./. - c.19C>T r.(?) p.(Arg7Cys) Parent #2 g.2906701G>A - CDKN1C_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia - Greek no - 2 Despoina Kalfakakou
./. - c.346A>G r.(?) p.(Ser116Gly) Parent #2 g.2906374T>C - CDKN1C_000010 - - - - DNA SEQ-NG-I 1 BrCa, OVCA, PANCA, SIC - F Lilaia, Phocis - Greek no - 4 Despoina Kalfakakou
./. - c.353C>T r.(?) p.(Pro118Leu) Parent #2 g.2906367G>A - CDKN1C_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Venice Mani Greek no - 2 Despoina Kalfakakou
./. - c.456G>C r.(=) p.(=) Parent #2 g.2906264C>G - CDKN1C_000015 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.494_499del r.(?) p.(Val165_Ala166del) Parent #2 g.2906221_2906226del - CDKN1C_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Kiato - Greek no - 1 Despoina Kalfakakou
./. - c.494_499del r.(?) p.(Val165_Ala166del) Both (homozygous) g.2906221_2906226del - CDKN1C_000011 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.518T>G r.(?) p.(Val173Gly) Parent #2 g.2906202A>C - CDKN1C_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Lamia - Greek no - 1 Despoina Kalfakakou
./. - c.531_532insGCGGTC r.(?) p.(Ala176_Val177dup) Parent #2 g.2906188_2906189insGACCGC - CDKN1C_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Aigio - Greek no - 1 Despoina Kalfakakou
./. - c.531_532insGCGGTC r.(?) p.(Ala176_Val177dup) Parent #2 g.2906188_2906189insGACCGC - CDKN1C_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens Alexandria, Imathia Greek no - 5 Despoina Kalfakakou
./. - c.531_532insGCGGTC r.(?) p.(Ala176_Val177dup) Parent #2 g.2906188_2906189insGACCGC - CDKN1C_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.531_532insGCGGTC r.(?) p.(Ala176_Val177dup) Parent #2 g.2906188_2906189insGACCGC - CDKN1C_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Northern Epirus Karkinagri, Icaria Greek no - 1 Despoina Kalfakakou
./. - c.600_629del r.(?) p.(Ala207_Pro216del) Parent #2 g.2906091_2906120del - CDKN1C_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Kiato, Corinth Throfari, Corinth Greek no - 1 Despoina Kalfakakou
./. - c.612G>A r.(=) p.(=) Parent #2 g.2906108C>T - CDKN1C_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth - Greek no - 1 Despoina Kalfakakou
./. - c.618_629del r.(?) p.(Ala213_Pro216del) Parent #2 g.2906091_2906102del - CDKN1C_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Chania Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.618_629del r.(?) p.(Ala213_Pro216del) Parent #2 g.2906091_2906102del - CDKN1C_000009 - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Kalamata Constantinople Greek no - 5 Despoina Kalfakakou
./. - c.618_629del r.(?) p.(Ala213_Pro216del) Parent #2 g.2906091_2906102del - CDKN1C_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Elis Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.618_629del r.(?) p.(Ala213_Pro216del) Parent #2 g.2906091_2906102del - CDKN1C_000009 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Preveza Mytikas, Preveza Greek no - 1 Despoina Kalfakakou
./. - c.618_629del r.(?) p.(Ala213_Pro216del) Parent #2 g.2906091_2906102del - CDKN1C_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Haliacmon, Kozani Siatista, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.628C>G r.(?) p.(Pro210Ala) Parent #2 g.2906092G>C - CDKN1C_000017 - - - - DNA SEQ-NG-I 1 RCC - F Kanalia, Magnesia Phylace, Magnesia Greek no - 1 Despoina Kalfakakou
./. - c.708G>A r.(=) p.(=) Parent #2 g.2906012C>T - CDKN1C_000006 rs3741341 - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi Athens Greek no - 1 Despoina Kalfakakou
./. - c.708G>A r.(=) p.(=) Parent #2 g.2906012C>T - CDKN1C_000006 rs3741341 - - - DNA SEQ-NG-I 1 BrCa - F Sparti Methana Greek no - 1 Despoina Kalfakakou
./. - c.708G>A r.(=) p.(=) Parent #2 g.2906012C>T - CDKN1C_000006 rs3741341 - - - DNA SEQ-NG-I 1 BrCa - F Romania - Greek no - 1 Despoina Kalfakakou
./. - c.708G>A r.(=) p.(=) Parent #2 g.2906012C>T - CDKN1C_000006 rs3741341 - - - DNA SEQ-NG-I 1 GIST, RCC - F Edessa - Greek no - 1 Despoina Kalfakakou
./. - c.820+20G>C r.(=) p.(=) Parent #2 g.2905880C>G - CDKN1C_000020 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.888C>T r.(=) p.(=) Parent #2 g.2905297G>A - CDKN1C_000019 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Germany - Greek no - 1 Despoina Kalfakakou
./. - c.*5+18_*5+19insC r.(=) p.(=) Parent #2 g.2905210_2905211insG - CDKN1C_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi Athens Greek no - 1 Despoina Kalfakakou
./. - c.*5+18_*5+19insC r.(=) p.(=) Parent #2 g.2905210_2905211insG - CDKN1C_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkida - Greek no - 1 Despoina Kalfakakou
./. - c.*5+18_*5+19insC r.(=) p.(=) Parent #2 g.2905210_2905211insG - CDKN1C_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Methana Greek no - 1 Despoina Kalfakakou
./. - c.*5+19_*5+20insA r.(=) p.(=) Parent #2 g.2905209_2905210insT - CDKN1C_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Chloi, Magnesia Velestino Greek no - 4 Despoina Kalfakakou
./. - c.*5+20G>C r.(=) p.(=) Parent #2 g.2905209C>G - CDKN1C_000013 - - - - DNA SEQ-NG-I 1 Healthy/Control - - - - - - - 1 Despoina Kalfakakou
./. - c.*5+20_*5+21insC r.(=) p.(=) Parent #2 g.2905208_2905209insG - CDKN1C_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Kozani Giannitsa Greek no - 1 Despoina Kalfakakou
./. - c.*5+24_*5+25insG r.(=) p.(=) Parent #2 g.2905204_2905205insC - CDKN1C_000024 rs34289096 - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.*5+24_*5+25insG r.(=) p.(=) Parent #2 g.2905204_2905205insC - CDKN1C_000024 rs34289096 - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.*5+24_*5+25insGG r.(=) p.(=) Parent #2 g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.*5+24_*5+25insGG r.(=) p.(=) Parent #2 g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - DNA SEQ-NG-I 1 Polyposis - M Nisaki, Corfu Potamos, Corfu Greek no - 1 Despoina Kalfakakou
./. - c.*5+24_*5+25insGG r.(=) p.(=) Parent #2 g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Izmir Greek no - 1 Despoina Kalfakakou
./. - c.*5+24_*5+25insGG r.(=) p.(=) Parent #2 g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - DNA SEQ-NG-I 1 BrCa, CHL - F Athens Alexandria Greek no - 2 Despoina Kalfakakou
./. - c.*5+24_*5+25insGG r.(=) p.(=) Parent #2 g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.*5+24_*5+25insGG r.(=) p.(=) Parent #1 g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.*5+24_*5+25insGG r.(=) p.(=) Parent #1 g.2905204_2905205insCC - CDKN1C_000002 rs34289096 - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.*5+25C>G r.(=) p.(=) Parent #2 g.2905204G>C - CDKN1C_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.*5+34C>T r.(=) p.(=) Parent #2 g.2905195G>A - CDKN1C_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Gjirokaster, Albania - Greek no - 1 Despoina Kalfakakou
./. - c.*5+34C>T r.(=) p.(=) Parent #2 g.2905195G>A - CDKN1C_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Mystras Mani Greek no - 1 Despoina Kalfakakou
./. - c.*6-40G>A r.(=) p.(=) Parent #2 g.2905185C>T - CDKN1C_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Mani Kymi, Evia Greek no - 1 Despoina Kalfakakou
./. - c.*6-40G>A r.(=) p.(=) Parent #2 g.2905185C>T - CDKN1C_000014 - - - - DNA SEQ-NG-I 1 OVCA - F Russia - Greek no - 1 Despoina Kalfakakou
Legend