Individual #00020464

Reference -
Gender M
Geographic origin Achaea
Geographic origin -
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     
0000012694 68y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001544 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
4 Parent #2 ?/? g.55597447C>G - KIT_000054 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2142-47C>G, NM_001093772.1:c.2130-47C>G r.(=) p.(=)
8 Parent #2 ?/? g.119122287del - EXT1_000027 - - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.962+37del r.(=) p.(=)
11 Parent #2 -/- g.108175387G>C - ATM_000035 rs3092828 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
16 Parent #2 +/+ g.89813256T>C - FANCA_000170 rs574034197 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3391A>G r.(?) p.(Thr1131Ala)
19 Parent #2 ?/? g.45855865T>C - ERCC2_000095 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1945A>G r.(?) p.(Asn649Asp)
19 Parent #2 ?/? g.45873495C>T - ERCC2_000030 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.6-5G>A, NM_001130867.1:c.-72G>A r.spl?, r.(=) p.?, p.(=)
Legend