Individual #00020453

Reference -
Gender M
Geographic origin Samsun, Pontus
Geographic origin Burgas, Bulgaria
Population Greek
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     
0000012669 70y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001531 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.29455188C>T - ALK_000090 rs1343280200 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2614G>A r.(?) p.(Gly872Ser)
2 Parent #2 -/- g.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 -?/-? g.47698179A>G - MSH2_000003 rs61756467 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 -?/-? g.37092176C>T - MLH1_000016 rs200903126 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.*32C>T, NM_001167617.1:c.*32C>T, NM_001167618.1:c.*32C>T, NM_001167619.1:c.*32C>T, NM_001258271.1:c.*32C>T, NM_001258273.1:c.*32C>T, NM_001258274.1:c.*32C>T r.(=) p.(=)
8 Parent #2 +/+ g.30938706del - WRN_000060 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1163del r.(?) p.(Arg389Glufs*4)
11 Parent #2 ?/? g.95555618A>G - CEP57_000028 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.781-45A>G, NM_001243777.1:c.807+476A>G, NM_014679.4:c.808-45A>G r.(=) p.(=)
15 Parent #2 -?/-? g.89824510A>G - FANCI_000017 rs145349375 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1491A>G, NM_018193.2:c.1491A>G r.(=) p.(=)
16 Parent #2 ?/? g.14029569T>G - ERCC4_000050 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1780T>G r.(?) p.(Tyr594Asp)
Legend