Individual #00016921

Reference -
Gender F
Geographic origin Agrinio
Geographic origin Athens
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     
0000009206 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000684 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.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
3 Parent #2 ?/? g.14206298G>A - XPC_000033 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.789+15C>T, NM_004628.4:c.900+15C>T r.(=) p.(=)
4 Parent #2 ?/? g.41749598A>C - PHOX2B_000010 - - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.242-45T>G r.(=) p.(=)
11 Parent #2 -/- g.108175387G>C - ATM_000035 rs3092828 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
14 Parent #2 ?/? g.45668087C>T - FANCM_000047 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5957C>T r.(?) p.(Thr1986Ile)
15 Parent #2 ?/? g.89848342C>G - FANCI_000038 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3059-4C>G, NM_018193.2:c.2879-4C>G r.spl? p.?
17 Parent #2 -?/-? g.56772522G>A - RAD51C_000007 rs61758784 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 -?/-? g.56780540G>T - RAD51C_000004 rs193023469 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
Legend