Individual #00017075

Reference -
Gender F
Geographic origin Glossa, Skopelos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000009415 35y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000801 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     
2 Parent #2 -/- g.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
2 Parent #2 -?/-? g.96920688C>T - TMEM127_000005 rs369144563 - Germline - - - - Despoina Kalfakakou TMEM127 - NM_001193304.2:c.292G>A, NM_017849.3:c.292G>A r.(?) p.(Ala98Thr)
6 Parent #2 -/- g.35420577C>A - FANCE_000007 rs186563531 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.248+7C>A r.(=) p.(=)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32910430C>T - BRCA2_000117 rs28897711 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1938C>T r.(=) p.(=)
17 Parent #2 +/+ g.17124804C>T - FLCN_000012 rs142934950 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.918G>A, NM_144997.5:c.871+47G>A r.(?), r.(=) p.(Trp306*), p.(=)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
17 Parent #2 ./. g.58740500A>G - chr17_000015 rs61756416 - - - - - - Despoina Kalfakakou PPM1D - NM_003620.3:c.1405A>G r.(?) p.(Lys469Glu)
22 Parent #2 ?/? g.29120915T>A - CHEK2_000004 rs17881298 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.721+50A>T, NM_001257387.1:c.-186+50A>T, NM_007194.3:c.592+50A>T, NM_145862.2:c.592+50A>T r.(=) p.(=)
22 Parent #2 +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
Legend