Full data view for gene CDKN1C

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

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
?/? - c.-36C>T r.(=) p.(=) Parent #2 g.2906755G>A - CDKN1C_000027 rs780580834 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavyli, Evros - Greek no - 1 Despoina Kalfakakou
-?/-? - c.15C>T r.(=) p.(=) Parent #2 g.2906705G>A - CDKN1C_000023 rs878853624 - Germline - - - - 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 rs201715947 - Germline - - - - 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 rs201715947 - Germline - - - - 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 rs201715947 - Germline - - - - 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 rs201715947 - Germline - - - - 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 rs374634184 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia - Greek no - 2 Despoina Kalfakakou
-?/-? - c.171C>T r.(=) p.(=) Parent #2 g.2906549G>A - CDKN1C_000026 rs1554938190 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Omvriaki, Domocos - Greek no - 1 Despoina Kalfakakou
?/? - c.346A>G r.(?) p.(Ser116Gly) Parent #2 g.2906374T>C - CDKN1C_000010 - - Germline - - - - 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 rs771731330 - Germline - - - - 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 - - Germline - - - - 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 rs878853627 - Germline - - - - 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 rs878853627 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.518T>G r.(?) p.(Val173Gly) Parent #2 g.2906202A>C - CDKN1C_000022 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Northern Epirus Karkinagri, Icaria Greek no - 1 Despoina Kalfakakou
./. - c.543_554del r.(?) p.(Ala191_Pro194del) Parent #2 g.2906166_2906177del - CDKN1C_000028 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Messenia - - - - 1 Stevi Xera
./. - c.575C>T r.(?) p.(Pro192Leu) Parent #2 g.2906145G>A - CDKN1C_000029 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
-?/-? - c.612G>A r.(=) p.(=) Parent #2 g.2906108C>T - CDKN1C_000021 rs794726872 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth - Greek no - 1 Despoina Kalfakakou
?/? - c.628C>G r.(?) p.(Pro210Ala) Parent #2 g.2906092G>C - CDKN1C_000017 - - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.888C>T r.(=) p.(=) Parent #2 g.2905297G>A - CDKN1C_000019 rs779172459 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Germany - Greek no - 1 Despoina Kalfakakou
./. - c.888C>T r.(=) p.(=) Parent #2 g.2905297G>A - CDKN1C_000019 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Patras - - - - 1 Stevi Xera
?/? - c.*5+18_*5+19insC r.(=) p.(=) Parent #2 g.2905210_2905211insG - CDKN1C_000008 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Methana Greek no - 1 Despoina Kalfakakou
?/? - c.*5+18_*5+19insC r.(=) p.(=) Parent #2 g.2905210_2905211insG - CDKN1C_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tharrounia, Aliveri, Evia Agios Loukas Greek no - 2 Despoina Kalfakakou
?/? - c.*5+19_*5+20insA r.(=) p.(=) Parent #2 g.2905209_2905210insT - CDKN1C_000018 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - M Ioannina Athens Greek no - 1 Despoina Kalfakakou
?/? - c.*5+20_*5+21insC r.(=) p.(=) Parent #2 g.2905208_2905209insG - CDKN1C_000012 - - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mystras Mani Greek no - 1 Despoina Kalfakakou
-?/-? - c.*5+34C>T r.(=) p.(=) Parent #2 g.2905195G>A - CDKN1C_000025 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kastania, Karditsa Athens Greek no - 2 Despoina Kalfakakou
?/? - c.*6-40G>A r.(=) p.(=) Parent #2 g.2905185C>T - CDKN1C_000014 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Russia - Greek no - 1 Despoina Kalfakakou
Legend