Individual #00016478

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


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000008574 35y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013397 45y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000198 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     
7 Parent #2 ?/? g.116380867T>A - MET_000002 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ?/? g.116380868A>T - MET_000003 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
9 Parent #2 ?/? g.98218617C>T - PTCH1_000021 rs202052415 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3247G>A, NM_001083602.1:c.3049G>A, NM_001083603.1:c.3244G>A, NM_001083604.1:c.2794G>A, NM_001083605.1:c.2794G>A, NM_001083606.1:c.2794G>A, NM_001083607.1:c.2794G>A r.(?) p.(Val1083Met), p.(Val1017Met), p.(Val1082Met), p.(Val932Met)
16 Parent #2 ?/? g.68835823C>T - CDH1_000007 rs33932809 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.387+27C>T r.(=) p.(=)
17 Parent #2 ?/? g.74470584T>C - RHBDF2_000016 rs765168441 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1335A>G, NM_024599.5:c.1422A>G r.(=) p.(=)
Legend