Individual #00021464

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


Phenotypes

Pancreatic cancer (PANCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000014024 80y - - - - - - - - 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     
0000013774 60y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001179 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.17354373_17354374insGAA - SDHB_000012 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTC r.(=) p.(=)
2 Parent #2 ./. g.48030632G>T - MSH6_000042 rs3136351 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3246G>T, NM_001281492.1:c.2856G>T, NM_001281493.1:c.2340G>T, NM_001281494.1:c.2340G>T r.(=) p.(=)
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
6 Parent #2 ./. g.35425720C>G - FANCE_000035 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.928C>G r.(?) p.(Pro310Ala)
7 Parent #2 ./. g.6042238G>A - PMS2_000050 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.383C>T r.(?) p.(Ser128Leu)
16 Parent #2 ./. g.68835754G>A - CDH1_000006 rs1801023 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
22 Parent #2 ./. g.29083837T>A - CHEK2_000032 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
Legend