Individual #00021497

Reference -
Gender F
Geographic origin Makrikapa, Euboea
Geographic origin -
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     
0000013956 70y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006962 DNA SEQ-NG-I 1 - 2 Despoina Kalfakakou



Variants

2 entries on 1 page. Showing entries 1 - 2.
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     
9 Parent #2 -?/-? g.98209401G>A - PTCH1_000126 rs149091602 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4137C>T, NM_001083602.1:c.3939C>T, NM_001083603.1:c.4134C>T, NM_001083604.1:c.3684C>T, NM_001083605.1:c.3684C>T, NM_001083606.1:c.3684C>T, NM_001083607.1:c.3684C>T r.(=) p.(=)
16 Parent #2 ?/? g.23646866T>C - PALB2_000017 rs200620434 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1001A>G r.(?) p.(Tyr334Cys)
Legend