Individual #00016432

Reference -
Gender F
Geographic origin Athens
Geographic origin Lemnos
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     
0000008508 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000155 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.29917925C>T - ALK_000015 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.788-45G>A r.(=) p.(=)
2 Parent #2 ?/? g.128018944G>A - ERCC3_000010 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1946-22C>T r.(=) p.(=)
8 Parent #2 ./. g.71012788C>A - chr8_000010 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128424757G>T - chr8_000009 rs76573300 - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2112646C>G - TSC2_000041 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1361+45C>G, NM_001077183.1:c.1361+45C>G, NM_001114382.1:c.1361+45C>G r.(=) p.(=)
16 Parent #2 ?/? g.23646215T>C - PALB2_000011 - - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1652A>G r.(?) p.(Tyr551Cys)
17 Parent #2 ?/? g.29576156_29576157del - NF1_000055 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4110+19_4110+20del, NM_001042492.2:c.4110+19_4110+20del r.(=) p.(=)
Legend