Individual #00017793

Reference -
Gender F
Geographic origin Patra
Geographic origin Livadeia
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     
0000010503 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001790 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.190717474C>T - PMS1_000035 - - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.793C>T, NM_001128143.1:c.676C>T, NM_001128144.1:c.793C>T r.(?) p.(Arg265*), p.(Arg226*)
3 Parent #2 -?/-? g.10183605C>T - VHL_000001 rs35460768 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.74C>T, NM_198156.2:c.74C>T r.(?) p.(Pro25Leu)
8 Parent #2 ?/? g.31030472T>C - WRN_000039 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.4192-39T>C r.(=) p.(=)
10 Parent #2 ?/? g.72360449G>A - PRF1_000013 rs202134601 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.210C>T, NM_005041.4:c.210C>T r.(=) p.(=)
10 Parent #2 ?/? g.88681384A>T - BMPR1A_000007 rs758599378 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1274A>T r.(?) p.(Tyr425Phe)
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.66521034_66521035insT - PRKAR1A_000024 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.503-19_503-18insT, NM_001276290.1:c.503-19_503-18insT, NM_002734.4:c.503-19_503-18insT, NM_212471.2:c.503-19_503-18insT, NM_212472.2:c.503-19_503-18insT r.(=) p.(=)
Legend