Individual #00021419

Reference -
Gender F
Geographic origin Corfu
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000013619 54y - - - - - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013618 54y - - III Endometrioid - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001135 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.17355075A>T - SDHB_000007 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.423+20T>A r.(=) p.(=)
2 Parent #2 ./. g.47596763_47596764insGGGCG - EPCAM_000023 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.76+43_76+44insGGGCG r.(=) p.(=)
2 Parent #2 ./. g.47637365G>C - MSH2_000027 rs63750255 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.499G>C, NM_001258281.1:c.301G>C r.(?) p.(Asp167His), p.(Asp101His)
2 Parent #2 ./. g.47698095G>A - MSH2_000025 rs17218356 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1662-9G>A, NM_001258281.1:c.1464-9G>A r.(=) p.(=)
2 Parent #2 ./. g.48032717T>A - MSH6_000003 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
10 Parent #2 ./. g.89690764A>G - PTEN_000007 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
15 Parent #2 ./. g.78908082del - chr15_000013 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #1 ./. g.78908082dup - chr15_000012 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.29556201C>G - NF1_000006 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
Legend