Individual #00016550

Reference -
Gender F
Geographic origin Argalasti, Pelion
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     
0000008676 48y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000254 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     
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
3 Parent #2 -/- g.37055947G>A - MLH1_000033 rs35908749 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.702G>A, NM_001167617.1:c.408G>A, NM_001167618.1:c.-22G>A, NM_001167619.1:c.-22G>A, NM_001258271.1:c.702G>A, NM_001258273.1:c.-22G>A, NM_001258274.1:c.-22G>A r.(=) p.(=)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
17 Parent #2 -?/-? g.29657461G>A - NF1_000072 rs141077224 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.5694G>A, NM_001042492.2:c.5757G>A r.(=) p.(=)
17 Parent #2 -?/-? g.74470194C>A - RHBDF2_000006 rs11553545 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1495G>T, NM_024599.5:c.1582G>T r.(?) p.(Asp499Tyr), p.(Asp528Tyr)
19 Parent #2 ?/? g.45856019C>G - ERCC2_000018 rs200665173 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1887G>C r.(?) p.(Gln629His)
Legend