Individual #00017244

Reference -
Gender F
Geographic origin Cyprus
Geographic origin -
Population Cypriot
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     
0000009641 52y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000901 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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     
6 Parent #2 ?/? g.35424008_35424010del - FANCE_000008 rs45451605 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.733_735del r.(?) p.(Gly246del)
8 Parent #2 ?/? g.90993657C>T - NBN_000033 rs747315554 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.266G>A r.(?) p.(Arg89Gln)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
14 Parent #2 ?/? g.65543336T>C - MAX_000008 rs772912674 - Germline - - - - Despoina Kalfakakou MAX - NM_001271069.1:c.144+17090A>G, NM_002382.4:c.341A>G, NM_145112.2:c.314A>G, NM_145113.2:c.*130A>G, NM_197957.3:c.171+17090A>G r.(?), r.(=) p.(Asn114Ser), p.(Asn105Ser), p.(=)
14 Parent #2 ?/? g.65568305A>G - MAX_000007 - - Germline - - - - Despoina Kalfakakou MAX - NM_001271068.1:c.36+717T>C, NM_001271069.1:c.36+717T>C, NM_002382.4:c.37-15T>C, NM_145112.2:c.36+717T>C, NM_145113.2:c.37-15T>C, NM_145114.2:c.37-15T>C, NM_197957.3:c.37-15T>C r.(=) p.(=)
15 Parent #2 -?/-? g.91333953C>G - BLM_000061 rs201220226 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2898C>G r.(=) p.(=)
16 Parent #2 ?/? g.14042043C>A - ERCC4_000026 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2590C>A r.(?) p.(Arg864Ser)
22 Parent #2 ?/? g.30051668G>A - NF2_000027 rs768301915 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.599+3G>A, NM_016418.5:c.599+3G>A, NM_181825.2:c.599+3G>A, NM_181828.2:c.473+3G>A, NM_181829.2:c.476+3G>A, NM_181830.2:c.350+3G>A, NM_181831.2:c.350+3G>A, NM_181832.2:c.599+3G>A, NM_181833.2:c.447+13394G>A r.spl?, r.(=) p.?, p.(=)
Legend