Individual #00017424

Reference -
Gender F
Geographic origin Sitia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, DFS
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     
0000009888 53y - - - - Despoina Kalfakakou

Dermatofibrosarcoma protuberans (DFS)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009889 45y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001092 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     
2 Parent #2 -/- g.29449798G>T - ALK_000019 rs138406372 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3057C>A r.(=) p.(=)
2 Parent #2 ?/? g.30142832C>T - ALK_000072 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.667+27G>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.(=)
9 Parent #2 ?/? g.98011434T>C - FANCC_000028 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.140A>G, NM_001243743.1:c.140A>G, NM_001243744.1:c.140A>G r.(?) p.(Lys47Arg)
11 Parent #2 ./. g.83620786A>G - chr11_000026 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -?/-? g.2111996C>T - TSC2_000117 rs374936223 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1244C>T, NM_001077183.1:c.1244C>T, NM_001114382.1:c.1244C>T r.(?) p.(Ala415Val)
16 Parent #2 ./. g.52586298G>T - chr16_000013 rs45606040 - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 -?/-? g.29095854T>C - CHEK2_000050 rs587780194 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1109A>G, NM_001257387.1:c.317A>G, NM_007194.3:c.980A>G, NM_145862.2:c.980A>G r.(?) p.(Tyr370Cys), p.(Tyr106Cys), p.(Tyr327Cys)
Legend