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     

Subcategory     

Phenotype details     

Inheritance     

Gleason     

LN     

Histology     

Stage     

Subtype     

Owner     
0000012669 70y - - - 10 - - - - 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.
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.29455188C>T - ALK_000090 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2614G>A r.(?) p.(Gly872Ser)
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1163del r.(?) p.(Arg389Glufs*4)
11 Parent #2 ./. g.95555618A>G - CEP57_000028 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1780T>G r.(?) p.(Tyr594Asp)
Legend