Individual #00021588

Reference -
Gender F
Geographic origin Nea Erythraia
Geographic origin Patras
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     
0000013383 44y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001773 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.29519858G>C - ALK_000096 rs902275025 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1713C>G r.(?) p.(Asn571Lys)
3 Parent #2 ?/? g.14208718C>T - XPC_000063 rs575874780 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.461G>A, NM_004628.4:c.572G>A r.(?) p.(Arg154Gln), p.(Arg191Gln)
11 Parent #2 -/- g.108175387G>C - ATM_000035 rs3092828 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
13 Parent #2 -/- g.32913804G>A - BRCA2_000099 rs80358755 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5312G>A r.(?) p.(Gly1771Asp)
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.(=)
15 Parent #2 -?/-? g.91354640T>G - BLM_000007 rs183176301 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
17 Parent #2 -?/-? g.17125995G>A - FLCN_000049 rs202217257 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.619-20C>T, NM_144997.5:c.619-20C>T r.(=) p.(=)
Legend