Individual #00015779

Reference -
Gender F
Geographic origin Tripoli
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 6
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     
0000007568 31y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005313 DNA SEQ-NG-I 1 - 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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     
17 Paternal (confirmed) +?/+? g.7577091G>A Fostira et al (2020), Kato et al (2003), Monti et al (2011), Evans et al (2019), Jagosova et al (2012) TP53_000001  rs149633775 Low-risk allele Germline ? - - - Despoina Kalfakakou TP53 - NM_000546.5:c.847C>T, NM_001126112.2:c.847C>T, NM_001126113.2:c.847C>T, NM_001126114.2:c.847C>T, NM_001126115.1:c.451C>T, NM_001126116.1:c.451C>T, NM_001126117.1:c.451C>T, NM_001126118.1:c.730C>T, NM_001276695.1:c.730C>T, NM_001276696.1:c.730C>T, NM_001276697.1:c.370C>T, NM_001276698.1:c.370C>T, NM_001276699.1:c.370C>T, NM_001276760.1:c.730C>T, NM_001276761.1:c.730C>T r.(?) p.(Arg283Cys), p.(Arg151Cys), p.(Arg124Cys), p.(Arg244Cys)
Legend