Individual #00020567

Reference -
Gender M
Geographic origin Mavrommati, Karditsa
Geographic origin Diava, Kalabaka
Population Greek
Consanguinity no
Remarks -
Panel size 4
Diseases RCC
Owner name Despoina Kalfakakou


Phenotypes

Renal cell carcinoma (RCC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013092 58y - - Papillary Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007087 DNA SEQ 1 PALB2 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     
16 Parent #2 +/+ g.23641218G>A [Vagena et al. 2019] PALB2_000012 rs180177110 - Germline - - - Yes Despoina Kalfakakou PALB2 - NM_024675.3:c.2257C>T r.(?) p.(Arg753*)
Legend