Individual #00021601

Reference -
Gender F
Geographic origin Neapoli, Laconia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA, PGL2
Owner name Despoina Kalfakakou


Phenotypes

Paragangliomas 2 (PGL2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013649 55y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013864 65y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001788 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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.48025738C>T - MSH6_000072 rs752105994 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.628-12C>T, NM_001281492.1:c.238-12C>T, NM_001281493.1:c.-279-12C>T, NM_001281494.1:c.-275-16C>T r.(=) p.(=)
9 Parent #2 ?/? g.135772175G>T - TSC1_000013 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2976-34C>A, NM_001162426.1:c.2973-34C>A, NM_001162427.1:c.2823-34C>A r.(=) p.(=)
12 Parent #2 ?/? g.121432118C>T - HNF1A_000042 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.865C>T r.(?) p.(Pro289Ser)
12 Parent #2 ?/? g.121432126A>G - HNF1A_000043 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.873A>G r.(=) p.(=)
16 Parent #2 -?/-? g.68842771del - CDH1_000010 rs778134914 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.687+20del r.(=) p.(=)
Legend