Individual #00015000

Reference -
Gender M
Geographic origin -
Geographic origin -
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     
0000010927 - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005460 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 Parent #2 ?/? g.7579878G>A - TP53_000006 rs1482497533 - Germline ? - - - Despoina Kalfakakou TP53 - NM_000546.5:c.35C>T, NM_001126112.2:c.35C>T, NM_001126113.2:c.35C>T, NM_001126114.2:c.35C>T, NM_001126115.1:c.-1345C>T, NM_001126116.1:c.-1345C>T, NM_001126117.1:c.-1345C>T, NM_001126118.1:c.-200C>T, NM_001276695.1:c.-83C>T, NM_001276696.1:c.-83C>T, NM_001276697.1:c.-1426C>T, NM_001276698.1:c.-1426C>T, NM_001276699.1:c.-1426C>T, NM_001276760.1:c.-83C>T, NM_001276761.1:c.-83C>T r.(?), r.(=) p.(Pro12Leu), p.(=)
Legend