Individual #00021334

Reference -
Gender F
Geographic origin Anogia, Rethimno
Geographic origin Chrani, Arcadia
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     
0000013226 30y - - III Clear-cell - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000862 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou



Variants

21 entries on 1 page. Showing entries 1 - 21.
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.161326653C>T - SDHC_000006 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5466C>T, NM_001035512.1:c.303+23C>T, NM_001035513.1:c.246+23C>T, NM_001278172.1:c.140-5466C>T, NM_003001.3:c.405+23C>T r.(=) p.(=)
3 Parent #2 ./. g.10103845C>T - FANCD2_000027 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1777C>T, NM_033084.3:c.1777C>T r.(?) p.(Pro593Ser)
3 Parent #2 ./. g.14212047G>A - XPC_000008 rs41545713 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
3 Parent #2 ./. g.52437206G>A - BAP1_000042 rs35448940 - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1838C>T r.(?) p.(Thr613Met)
3 Parent #2 ./. g.52440269C>T - BAP1_000038 rs35003777 - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.783G>A r.(=) p.(=)
3 Parent #2 ./. g.52443667A>C - BAP1_000039 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.68-43T>G r.(=) p.(=)
3 Parent #2 ./. g.128199935G>A - GATA2_000012 - - - - - - - Despoina Kalfakakou GATA2 - NM_001145661.1:c.1370C>T, NM_001145662.1:c.1328C>T, NM_032638.4:c.1370C>T r.(?) p.(Thr457Met), p.(Thr443Met)
4 Parent #2 ./. g.55597987C>T - KIT_000009 rs72549295 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2234-50C>T, NM_001093772.1:c.2222-50C>T r.(=) p.(=)
5 Parent #2 ./. g.1895781A>T - chr5_000015 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.116397485T>A - MET_000035 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1863-6T>A, NM_001127500.1:c.1863-6T>A r.(=) p.(=)
9 Parent #2 ./. g.100456065C>A - XPA_000015 - - - - - - - Despoina Kalfakakou XPA - NM_000380.3:c.173-24G>T r.(=) p.(=)
10 Parent #2 ./. g.104263946A>C - SUFU_000018 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.37A>C, NM_016169.3:c.37A>C r.(?) p.(Thr13Pro)
11 Parent #2 ./. g.67250676G>A - AIP_000009 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 ./. g.108175387G>C - ATM_000035 rs3092828 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
11 Parent #2 ./. g.108218101T>G - ATM_000127 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8671+9T>G r.(=) p.(=)
13 Parent #2 ./. g.48954153C>A - RB1_000012 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
16 Parent #2 ./. g.2112989G>A - TSC2_000161 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1378G>A, NM_001077183.1:c.1378G>A, NM_001114382.1:c.1378G>A r.(?) p.(Ala460Thr)
16 Parent #2 ./. g.89842176C>G - FANCA_000004 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
17 Parent #2 ./. g.25541317C>T - chr17_000002 - - - - - - - Despoina Kalfakakou - - - -
21 Parent #2 ./. g.36259125T>C - RUNX1_000006 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.270+15A>G, NM_001122607.1:c.270+15A>G, NM_001754.4:c.351+15A>G r.(=) p.(=)
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