Individual #00021509

Reference -
Gender F
Geographic origin Agios Georgios Nileias, Pelion
Geographic origin Katochori, Pelion
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     

OvCa FH     

Subtype     

Owner     
0000013845 64y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007420 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     
4 Parent #2 -?/-? g.41748010C>T - PHOX2B_000028 rs1018522821 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.759G>A r.(=) p.(=)
5 Parent #2 ?/? g.112136939_112136950del - APC_000171 - - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.730-37_730-26del, NM_001127510.2:c.730-37_730-26del, NM_001127511.2:c.676-37_676-26del r.(=) p.(=)
5 Parent #2 -?/-? g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.730-22G>C, NM_001127510.2:c.730-22G>C, NM_001127511.2:c.676-22G>C r.(=) p.(=)
11 Parent #2 ?/? g.108168130G>A - ATM_000258 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5005+21G>A r.(=) p.(=)
11 Parent #2 ?/? g.111959786A>T - SDHD_000005 - - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.169+1089A>T, NM_001276504.1:c.197+51A>T, NM_001276506.1:c.314+51A>T, NM_003002.3:c.314+51A>T r.(=) p.(=)
13 Parent #2 ?/? g.32911193C>G - BRCA2_000295 - - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2701C>G r.(?) p.(Leu901Val)
16 Parent #2 -?/-? g.2112558G>A - TSC2_000093 rs45484298 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1318G>A, NM_001077183.1:c.1318G>A, NM_001114382.1:c.1318G>A r.(?) p.(Gly440Ser)
16 Parent #2 -?/-? g.3658881G>A - SLX4_000080 rs144832924 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.85C>T r.(?) p.(Arg29Cys)
16 Parent #2 -/- g.14026008T>C - ERCC4_000003 rs201181735 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - 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