Individual #00020459

Reference -
Gender M
Geographic origin Euboea
Geographic origin Attika
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     
0000012685 59y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001539 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.58392928C>T - FANCL_000034 rs199564543 - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.637G>A, NM_018062.3:c.622G>A r.(?) p.(Asp213Asn), p.(Asp208Asn)
2 Parent #2 ?/? g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1609G>A, NM_001128143.1:c.1492G>A, NM_001128144.1:c.1609G>A r.(?) p.(Glu537Lys), p.(Glu498Lys)
3 Parent #2 ./. g.37089131A>G - MLH1_000108 rs63750449 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1853A>G, NM_001167617.1:c.1559A>G, NM_001167618.1:c.1130A>G, NM_001167619.1:c.1130A>G, NM_001258271.1:c.1853A>G, NM_001258273.1:c.1130A>G, NM_001258274.1:c.1130A>G r.(?) p.(Lys618Arg), p.(Lys520Arg), p.(Lys377Arg)
3 Parent #2 -?/-? g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.501G>A r.(=) p.(=)
4 Parent #2 -?/-? g.41748001T>C - PHOX2B_000023 rs574093401 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.768A>G r.(=) p.(=)
4 Parent #2 ./. g.100239268A>G - chr4_000006 rs41275699 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108151707_108151708insTA - ATM_000093 rs1555091084 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insTA r.(=) p.(=)
11 Parent #1 -/- g.108151709dup - ATM_000092 rs3218681 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-13dup r.(=) p.(=)
14 Parent #2 +/+ g.45658326C>T - FANCM_000076 rs147021911 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5101C>T r.(?) p.(Gln1701*)
16 Parent #2 -?/-? g.68862204C>T - CDH1_000002 rs61747636 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2292C>T r.(=) p.(=)
19 Parent #2 ?/? g.45855515G>C - ERCC2_000092 rs546902024 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2142C>G r.(=) p.(=)
19 Parent #2 -?/-? g.45867799G>A - ERCC2_000031 rs1799792 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.601C>T, NM_001130867.1:c.529C>T r.(?) p.(His201Tyr), p.(His177Tyr)
19 Parent #2 ?/? g.45871870G>A - ERCC2_000089 rs1799784 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.360+18C>T, NM_001130867.1:c.288+18C>T r.(=) p.(=)
Legend