Individual #00021441

Reference -
Gender F
Geographic origin Evrytania
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00021440
Panel size 2
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007378 DNA SEQ 0 FANCA 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 Maternal (confirmed) +/+ g.89882974dupC - FANCA_000238 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.50dupG, NM_001018112.1:c.50dupG r.(?) p.(Arg18Profs*19)
Legend