Individual #00020853

Reference -
Gender M
Geographic origin Kalamata
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00020849
Panel size 14
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     
0000006771 DNA SEQ 0 SDHB 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     
1 Maternal (confirmed) +/+ g.17371319C>T Andrews et al (2018)   Kim et al (2015) SDHB_000036 rs772551056 - Germline ? - - - Despoina Kalfakakou SDHB - NM_003000.2:c.137G>A r.(?) p.(Arg46Gln)
Legend