Individual #00021816

Reference -
Gender F
Geographic origin Euboea
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     
0000013949 69y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002112 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.48027755T>C - MSH6_000008 rs2020912 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
3 Parent #2 ?/? g.10130195A>G - FANCD2_000144 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3529A>G, NM_033084.3:c.3529A>G r.(?) p.(Ile1177Val)
8 Parent #2 -?/-? g.90990521T>C   Yamamoto et al (2014)   NBN_000003 rs61754966 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.511A>G r.(?) p.(Ile171Val)
10 Parent #2 ./. g.64580528T>G - chr10_000004 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.44129413G>C - EXT2_000022 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.250G>C, NM_001178083.1:c.151G>C, NM_207122.1:c.151G>C r.(?) p.(Glu84Gln), p.(Glu51Gln)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
13 Parent #2 ./. g.73728134C>T - chr13_000010 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29587402A>G - NF1_000035 rs876658776 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4383A>G, NM_001042492.2:c.4446A>G r.(?) p.(Ile1461Met), p.(Ile1482Met)
17 Parent #2 ?/? g.29665117C>T - NF1_000047 rs876658775 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6716C>T, NM_001042492.2:c.6779C>T r.(?) p.(Ser2239Phe), p.(Ser2260Phe)
Legend