Individual #00017557

Reference -
Gender F
Geographic origin Myrsini, Laconia
Geographic origin Finiki, Thesprotia
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     
0000010061 41y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001227 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     
4 Parent #2 ?/? g.55524280C>T - KIT_000027 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.67+32C>T, NM_001093772.1:c.67+32C>T r.(=) p.(=)
4 Parent #2 ?/? g.55602836T>C - KIT_000043 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2597-51T>C, NM_001093772.1:c.2585-51T>C r.(=) p.(=)
7 Parent #2 -/- g.55268949A>G - EGFR_000025 rs55737335 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3015A>G r.(=) p.(=)
8 Parent #2 ./. g.128192965G>A - chr8_000016 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
11 Parent #2 ./. g.68994464G>A - chr11_000028 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108151707_108151708insTA - ATM_000093 rs1555091084 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insTA r.(=) p.(=)
11 Parent #1 -/- g.108151709dup - ATM_000092 rs3218681 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-13dup r.(=) p.(=)
16 Parent #2 -/- g.2114422C>T - TSC2_000048 rs45517180 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1593C>T, NM_001077183.1:c.1593C>T, NM_001114382.1:c.1593C>T r.(=) p.(=)
17 Parent #2 -/- g.74469914C>T - RHBDF2_000031 rs201989863 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1638+7G>A, NM_024599.5:c.1725+7G>A r.(=) p.(=)
17 Parent #2 -/- g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.314G>A, NM_024599.5:c.401G>A r.(?) p.(Gly105Glu), p.(Gly134Glu)
Legend