Individual #00021780

Reference -
Gender F
Geographic origin Kalamata
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     
0000013464 47y - - - - - - - - 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     
0000013582 52y - - I Endometrioid - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002058 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ./. g.128036975G>T - ERCC3_000068 rs4150462 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1528-24C>A r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067102del - MLH1_000005 rs71831268 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
5 Parent #2 ./. g.112128202A>G - APC_000009 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.705A>G, NM_001127510.2:c.705A>G, NM_001127511.2:c.676-8774A>G r.(=) p.(=)
7 Parent #2 ./. g.6017308G>T - PMS2_000013 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2356C>A r.(?) p.(Leu786Met)
11 Parent #2 ./. g.44228488C>T - EXT2_000004 rs75987184 - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1740C>T, NM_001178083.1:c.1671C>T, NM_207122.1:c.1641C>T r.(=) p.(=)
11 Parent #2 ./. g.67258278C>T - AIP_000004 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.807C>T r.(=) p.(=)
18 Parent #2 ./. g.43317004C>T - chr18_000002 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 ./. g.29121087A>G - CHEK2_000007 rs17879961 - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
Legend