Individual #00018845

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00014716
Panel size 4
Diseases GLM3
Owner name Despoina Kalfakakou


Phenotypes

Glioblastoma 3 (GLM3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000007858 63y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001053 DNA SEQ 0 BRCA1 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.41199660C>T [Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000056 rs80357212 - Germline - - - Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5467G>A, NM_007297.3:c.5326G>A, NM_007298.3:c.2155G>A, NM_007299.3:c.2081G>A, NM_007300.3:c.5530G>A r.(?) p.(Ala1823Thr), p.(Ala1776Thr), p.(Ala719Thr), p.(Cys694Tyr), p.(Ala1844Thr)
Legend