Individual #00021785

Reference -
Gender F
Geographic origin Trikala & Athens
Geographic origin Thera & Athens
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     
0000013214 27y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002068 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
1 Parent #2 ./. g.121280606C>T - chr1_000002 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 +/+ g.47702225del - MSH2_000081 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1821del, NM_001258281.1:c.1623del r.(?) p.(Phe608Leufs*27), p.(Phe542Leufs*27)
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.37061777T>A - MLH1_000039  rs201594027 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.885-24T>A, NM_001167617.1:c.591-24T>A, NM_001167618.1:c.162-24T>A, NM_001167619.1:c.162-24T>A, NM_001258271.1:c.885-24T>A, NM_001258273.1:c.162-24T>A, NM_001258274.1:c.162-24T>A r.(=) p.(=)
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.30925817C>T - WRN_000120 rs1554519446 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.698C>T r.(?) p.(Thr233Ile)
8 Parent #2 -?/-? g.30999079A>T - WRN_000051 rs200370409 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3101A>T r.(?) p.(Tyr1034Phe)
8 Parent #2 ?/? g.145739268_145739270del - RECQL4_000106 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2058+42_2058+44del - p.?
8 Parent #2 -?/-? g.145739417G>A - RECQL4_000208 rs778308001 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1953C>T - p.?
10 Parent #2 ?/? g.88676857C>T - BMPR1A_000045 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.676-34C>T r.(=) p.(=)
11 Parent #2 ?/? g.108117732T>G - ATM_000227 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.943T>G r.(?) p.(Leu315Val)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
16 Parent #2 -?/-? g.89882965C>T - FANCA_000111 rs376307136 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.59G>A, NM_001018112.1:c.59G>A r.(?) p.(Arg20Lys)
19 Parent #2 ?/? g.45855649C>T - ERCC2_000017 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-39G>A r.(=) p.(=)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend