Individual #00016791

Reference -
Gender F
Geographic origin Kea
Geographic origin Drama
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     
0000009041 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000493 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.29606744A>G - ALK_000033 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1155-19T>C r.(=) p.(=)
6 Parent #2 ./. g.160833647A>G - chr6_000027 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145738960G>C - RECQL4_000082 rs1060501366 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2195C>G - p.?
14 Parent #2 ?/? g.95584087T>C - DICER1_000019 rs141163928 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1381A>G, NM_001271282.1:c.1381A>G, NM_030621.3:c.1381A>G, NM_177438.2:c.1381A>G r.(?) p.(Ile461Val)
15 Parent #2 ?/? g.89807795A>G - FANCI_000047 rs112932178 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.712A>G, NM_018193.2:c.712A>G r.(?) p.(Ser238Gly)
16 Parent #2 ?/? g.89804989G>A - FANCA_000074 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.*20C>T r.(=) p.(=)
Legend