Individual #00016718

Reference -
Gender F
Geographic origin Florina
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     
0000008936 31y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000376 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     
8 Parent #2 ./. g.128192965G>A - chr8_000016 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ?/? g.43613785G>A - RET_000018 rs1201728335 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2285-36G>A, NM_020975.4:c.2285-36G>A r.(=) p.(=)
11 Parent #2 ./. g.69239782C>T - chr11_000014 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108124682C>T - ATM_000039 rs587780855 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2040C>T r.(=) p.(=)
13 Parent #2 -?/-? g.48878161G>A - RB1_000025 rs766529534 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.113G>A r.(?) p.(Gly38Asp)
15 Parent #2 -?/-? g.91358446G>A - BLM_000031 rs1596276580 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4191G>A r.(=) p.(=)
Legend