Individual #00021426

Reference -
Gender F
Geographic origin Milos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013955 70y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001137 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     
7 Parent #2 ?/? g.116340384A>C - MET_000008 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1200+46A>C, NM_001127500.1:c.1200+46A>C r.(=) p.(=)
9 Parent #2 ?/? g.97897704T>C - FANCC_000029 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.767A>G, NM_001243743.1:c.767A>G, NM_001243744.1:c.767A>G r.(?) p.(His256Arg)
9 Parent #2 -?/-? g.98209653G>A - PTCH1_000082 rs267602323 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3885C>T, NM_001083602.1:c.3687C>T, NM_001083603.1:c.3882C>T, NM_001083604.1:c.3432C>T, NM_001083605.1:c.3432C>T, NM_001083606.1:c.3432C>T, NM_001083607.1:c.3432C>T r.(=) p.(=)
11 Parent #2 -?/-? g.108119823T>C - ATM_000020 rs56128736 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1229T>C r.(?) p.(Val410Ala)
13 Parent #2 -?/-? g.32913178A>G - BRCA2_000167 rs28897730 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4686A>G r.(=) p.(=)
16 Parent #2 -/- g.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 -/- g.3645724C>T - SLX4_000019 rs149916101 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 -/- g.3646275C>T - SLX4_000001 rs144892556 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 -/- g.3646323G>A - SLX4_000002 rs114016359 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
16 Parent #2 ?/? g.14028185T>C - ERCC4_000032 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1213+26T>C r.(=) p.(=)
17 Parent #2 ?/? g.29554356A>G - NF1_000219 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2325+47A>G, NM_001042492.2:c.2325+47A>G, NM_001128147.2:c.*5348A>G r.(=) p.(=)
17 Parent #2 ?/? g.29554360G>T - NF1_000220 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2325+51G>T, NM_001042492.2:c.2325+51G>T, NM_001128147.2:c.*5352G>T r.(=) p.(=)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
Legend