Individual #00017836

Reference -
Gender F
Geographic origin Kavala
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
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     
0000010607 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001933 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.48028314T>C - MSH6_000088 rs3136335 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3172+20T>C, NM_001281492.1:c.2782+20T>C, NM_001281493.1:c.2266+20T>C, NM_001281494.1:c.2266+20T>C r.(=) p.(=)
7 Parent #2 ?/? g.6043609C>T - PMS2_000038 rs754191682 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.244G>A r.(?) p.(Gly82Ser)
7 Parent #2 ?/? g.116419026A>G - MET_000038 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3522+15A>G, NM_001127500.1:c.3576+15A>G r.(=) p.(=)
13 Parent #2 -?/-? g.32971040T>C - BRCA2_000216 rs864622407 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9507T>C r.(=) p.(=)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
Legend