Individual #00020439

Reference -
Gender M
Geographic origin Thessaloniki
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     
0000013166 52y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001509 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     
1 Parent #2 ?/? g.193119552T>A - CDC73_000030 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.907+40T>A r.(=) p.(=)
10 Parent #2 ?/? g.43613908A>T - RET_000003 rs77724903 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
13 Parent #2 ?/? g.48954145C>A - RB1_000017 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-44C>A r.(=) p.(=)
13 Parent #2 ?/? g.49033991C>T - RB1_000063 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2106+22C>T r.(=) p.(=)
13 Parent #2 ?/? g.103504420G>A - ERCC5_000011 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.89-48G>A r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
15 Parent #2 -?/-? g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1928G>A r.(?) p.(Arg643His)
16 Parent #2 ?/? g.89805745T>A - FANCA_000118 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4011-48A>T r.(=) p.(=)
16 Parent #2 -?/-? g.89882965C>T - FANCA_000111 rs376307136 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.59G>A, NM_001018112.1:c.59G>A r.(?) p.(Arg20Lys)
17 Parent #2 ?/? g.74469688G>C - RHBDF2_000047 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1733+42C>G, NM_024599.5:c.1820+42C>G r.(=) p.(=)
22 Parent #2 -?/-? g.29083950G>A - CHEK2_000061 rs149501505 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1696C>T, NM_001257387.1:c.904C>T, NM_007194.3:c.1567C>T, NM_145862.2:c.1480C>T r.(?) p.(Arg566Cys), p.(Arg302Cys), p.(Arg523Cys), p.(Arg494Cys)
Legend