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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009206 46y - - Ductal Invasive III N/A Negative Negative Negative - - - 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 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
3 Parent #2 ./. g.14206298G>A - XPC_000033 - - - - - - - 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 - - - - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.242-45T>G r.(=) p.(=)
11 Parent #2 ./. g.108175387G>C - ATM_000035 rs3092828 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
14 Parent #2 ./. g.45668087C>T - FANCM_000047 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5957C>T r.(?) p.(Thr1986Ile)
15 Parent #2 ./. g.89848342C>G - FANCI_000038 - - - - - - - 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 - - - - - - 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 - - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
Legend