Individual #00020462

Reference -
Gender M
Geographic origin Famagusta, Cyprus
Geographic origin De─čirmenlik, Cyprus
Population Cypriot
Consanguinity no
Remarks -
Panel size 1
Diseases PrCa
Owner name Despoina Kalfakakou


Phenotypes

Prostate cancer (PrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012690 65y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001541 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 ./. g.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.14220112G>T - XPC_000049 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.-44C>A, NM_004628.4:c.-44C>A r.(=) p.(=)
3 Parent #2 ?/? g.128205608G>A - GATA2_000018 - - Germline - - - - Despoina Kalfakakou GATA2 - NM_001145661.1:c.229+38C>T, NM_001145662.1:c.229+38C>T, NM_032638.4:c.229+38C>T r.(=) p.(=)
7 Parent #2 ?/? g.116380095C>T - MET_000061 rs45585831 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1484C>T, NM_001127500.1:c.1484C>T r.(?) p.(Thr495Ile)
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
11 Parent #2 ?/? g.32456784C>G - WT1_000005 - - Germline - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
11 Parent #2 ?/? g.108106598C>T - ATM_000189 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.496+37C>T r.(=) p.(=)
13 Parent #2 -/- g.32912750G>T - BRCA2_000026 rs28897727 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
17 Parent #2 -/- g.17118285A>C - FLCN_000016 rs112111994 - Germline - - - - Despoina Kalfakakou FLCN - NM_144997.5:c.1538+14T>G r.(=) p.(=)
17 Parent #2 ?/? g.29541620G>A - NF1_000211 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1527+17G>A, NM_001042492.2:c.1527+17G>A, NM_001128147.2:c.1527+17G>A r.(=) p.(=)
20 Parent #2 ./. g.62318225del - chr20_000011 - - - - - - - Despoina Kalfakakou - - - -
Legend