Individual #00021621

Reference -
Gender F
Geographic origin Gouves, Heraklion
Geographic origin Heraklion
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     
0000013728 58y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001814 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
5 Parent #2 ./. g.1895781A>T - chr5_000015 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32578071G>A - chr6_000017 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 ?/? g.90970914T>C - NBN_000049 rs373256780 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1124+39A>G r.(=) p.(=)
8 Parent #2 ./. g.128323143C>A - chr8_000041 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 -?/-? g.135782675G>A - TSC1_000072 rs118203516 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1333+13C>T, NM_001162426.1:c.1330+13C>T, NM_001162427.1:c.1180+13C>T r.(=) p.(=)
10 Parent #2 -?/-? g.72360577G>A - PRF1_000009 rs141660796 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.82C>T, NM_005041.4:c.82C>T r.(?) p.(Arg28Cys)
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.103506211C>T - ERCC5_000081 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.369C>T r.(=) p.(=)
15 Parent #2 -?/-? g.91347463T>A - BLM_000004 rs1801256 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3625T>A r.(?) p.(Ser1209Thr)
16 Parent #2 -/- g.89805125G>C - FANCA_000092 rs368506826 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4261-9C>G r.(=) p.(=)
17 Parent #2 -?/-? g.41242938_41242939insCA - BRCA1_000134 rs273900723 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4185+22_4185+23insTG, NM_007297.3:c.4044+22_4044+23insTG, NM_007298.3:c.876+22_876+23insTG, NM_007299.3:c.876+22_876+23insTG, NM_007300.3:c.4185+22_4185+23insTG r.(=) p.(=)
X Parent #2 -/- g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1354G>A, NM_001164618.1:c.1237G>A, NM_001164619.1:c.1123G>A, NM_004484.3:c.1285G>A r.(?) p.(Val452Met), p.(Val413Met), p.(Val375Met), p.(Val429Met)
Legend