Individual #00016512

Reference -
Gender F
Geographic origin Chios
Geographic origin Corfu
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008624 39y - - Ductal Invasive III N/A Negative Negative Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000226 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
1 Parent #2 ./. g.45798440G>A - MUTYH_000017 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.529C>T, NM_001048172.1:c.490C>T, NM_001048173.1:c.487C>T, NM_001048174.1:c.487C>T, NM_001128425.1:c.571C>T, NM_012222.2:c.562C>T r.(?) p.(Arg177Trp), p.(Arg164Trp), p.(Arg163Trp), p.(Arg191Trp), p.(Arg188Trp)
3 Parent #2 ./. g.10084396A>G - FANCD2_000042 rs55921165 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.888+49A>G, NM_033084.3:c.888+49A>G r.(=) p.(=)
3 Parent #2 ./. g.10108991G>A - FANCD2_000029 rs55980657 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2484G>A, NM_033084.3:c.2484G>A r.(=) p.(=)
3 Parent #2 ./. g.10131954G>A - FANCD2_000040 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3684-22G>A, NM_033084.3:c.3684-22G>A r.(=) p.(=)
3 Parent #2 ./. g.10191638A>C - VHL_000011 - - - - - - - Despoina Kalfakakou VHL - NM_000551.3:c.631A>C, NM_198156.2:c.508A>C r.(?) p.(Met211Leu), p.(Met170Leu)
4 Parent #2 ./. g.55592059A>G - KIT_000023 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1383A>G, NM_001093772.1:c.1383A>G r.(=) p.(=)
6 Parent #2 ./. g.35427104G>A - FANCE_000011 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1114-4G>A r.spl? p.?
9 Parent #2 ./. g.97912307T>A - FANCC_000001 rs1800365 - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.584A>T, NM_001243743.1:c.584A>T, NM_001243744.1:c.584A>T r.(?) p.(Asp195Val)
17 Parent #2 ./. g.17118650G>A - FLCN_000008 - - - - - - - Despoina Kalfakakou FLCN - NM_144997.5:c.1301-20C>T r.(=) p.(=)
17 Parent #2 ./. g.29508705G>T - NF1_000103 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.655-23G>T, NM_001042492.2:c.655-23G>T, NM_001128147.2:c.655-23G>T r.(=) p.(=)
17 Parent #2 ./. g.74469185C>T - RHBDF2_000007 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
Legend