Individual #00021216

Reference -
Gender F
Geographic origin Tithorea, Livadia
Geographic origin Edessa
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000013423 46y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000351 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
1 Parent #2 ./. g.161293488A>T - SDHC_000001 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+28A>T, NM_001035512.1:c.77+28A>T, NM_001035513.1:c.20+9273A>T, NM_001278172.1:c.77+28A>T, NM_003001.3:c.77+28A>T r.(=) p.(=)
2 Parent #2 ./. g.47635602C>G - MSH2_000029 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.274C>G, NM_001258281.1:c.76C>G r.(?) p.(Leu92Val), p.(Leu26Val)
3 Parent #2 ./. g.14199940C>A - XPC_000002 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1332G>T, NM_004628.4:c.1443G>T r.(?) p.(Lys444Asn), p.(Lys481Asn)
16 Parent #2 ./. g.2136886C>T - TSC2_000083 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4989+14C>T, NM_001077183.1:c.4788+14C>T, NM_001114382.1:c.4920+14C>T r.(=) p.(=)
16 Parent #2 ./. g.68863543T>C - CDH1_000024 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2296-14T>C r.(=) p.(=)
17 Parent #2 ./. g.29554281T>C - NF1_000018 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2297T>C, NM_001042492.2:c.2297T>C, NM_001128147.2:c.*5273T>C r.(?), r.(=) p.(Ile766Thr), p.(=)
17 Parent #2 ./. g.41258504A>C - BRCA1_000014 rs28897672 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.181T>G, NM_007297.3:c.40T>G, NM_007298.3:c.181T>G, NM_007299.3:c.181T>G, NM_007300.3:c.181T>G r.(?) p.(Cys61Gly), p.(Cys14Gly)
18 Parent #2 ./. g.48604848C>T - SMAD4_000004 rs11663402 - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
22 Parent #2 ./. g.24175942A>G - SMARCB1_000007 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.1091+52A>G, NM_003073.3:c.1118+52A>G r.(=) p.(=)
Legend