Individual #00016331

Reference -
Gender F
Geographic origin Piraeus
Geographic origin Milos
Population Greek
Consanguinity no
Remarks -
Panel ID 00016330
Panel size 2
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     
0000008365 31y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000072 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
3 Parent #2 -?/-? g.128199904G>A - GATA2_000001 rs534807053 - Germline - - - - Despoina Kalfakakou GATA2 - NM_001145661.1:c.1401C>T, NM_001145662.1:c.1359C>T, NM_032638.4:c.1401C>T r.(=) p.(=)
4 Parent #2 ?/? g.41748089G>A - PHOX2B_000002 rs779913205 - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.680C>T r.(?) p.(Ala227Val)
4 Parent #2 ?/? g.41748090C>A - PHOX2B_000003 - - Germline - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.679G>T r.(?) p.(Ala227Ser)
17 Parent #2 ?/? g.29486153A>G - NF1_000022 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.288+42A>G, NM_001042492.2:c.288+42A>G, NM_001128147.2:c.288+42A>G r.(=) p.(=)
19 Parent #2 ?/? g.45872284G>A - ERCC2_000002 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.184-34C>T, NM_001130867.1:c.112-34C>T r.(=) p.(=)
Legend