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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013214 27y - - III Clear-cell - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.698C>T r.(?) p.(Thr233Ile)
8 Parent #2 ./. g.30999079A>T - WRN_000051 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3101A>T r.(?) p.(Tyr1034Phe)
8 Parent #2 ./. g.145739268_145739270del - RECQL4_000106 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2058+42_2058+44del - p.?
8 Parent #2 ./. g.145739417G>A - RECQL4_000208 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1953C>T - p.?
10 Parent #2 ./. g.88676857C>T - BMPR1A_000045 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.676-34C>T r.(=) p.(=)
11 Parent #2 ./. g.108117732T>G - ATM_000227 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.943T>G r.(?) p.(Leu315Val)
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
16 Parent #2 ./. g.89882965C>T - FANCA_000111 - - - - - - - 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 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2047-39G>A r.(=) p.(=)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend