Individual #00017822

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Croatia
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     
0000010578 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001869 DNA SEQ-NG-I 1 - 3 Despoina Kalfakakou



Variants

3 entries on 1 page. Showing entries 1 - 3.
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     
16 Parent #2 ?/? g.2103372C>T - TSC2_000039 rs45517098 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 -?/-? g.3640450G>A - SLX4_000015 rs200742809 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3189C>T r.(=) p.(=)
22 Parent #2 ?/? g.30090842G>A - NF2_000038 - - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.*51G>A, NM_016418.5:c.*111G>A, NM_181828.2:c.*111G>A, NM_181829.2:c.*111G>A, NM_181830.2:c.*111G>A, NM_181832.2:c.*126G>A, NM_181833.2:c.*51G>A r.(=) p.(=)
Legend