Individual #00020811

Reference -
Gender F
Geographic origin Mystras
Geographic origin Cythera
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases OSRC, RMSE2
Owner name Despoina Kalfakakou


Phenotypes

Rhabdomyosarcoma, embryonal, 2 (RMSE2)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012612 2y - - Mesenchymal Despoina Kalfakakou

Osteosarcoma (OSRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012611 10y - - Chondroplastic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006745 DNA SEQ 1 TP53 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.7577094G>A Kato et al (2003) Monti et al (2011) TP53_000047  rs28934574 - Germline ? - - - Despoina Kalfakakou TP53 - NM_000546.5:c.844C>T, NM_001126112.2:c.844C>T, NM_001126113.2:c.844C>T, NM_001126114.2:c.844C>T, NM_001126115.1:c.448C>T, NM_001126116.1:c.448C>T, NM_001126117.1:c.448C>T, NM_001126118.1:c.727C>T, NM_001276695.1:c.727C>T, NM_001276696.1:c.727C>T, NM_001276697.1:c.367C>T, NM_001276698.1:c.367C>T, NM_001276699.1:c.367C>T, NM_001276760.1:c.727C>T, NM_001276761.1:c.727C>T r.(?) p.(Arg282Trp), p.(Arg150Trp), p.(Arg123Trp), p.(Arg243Trp)
Legend