Individual #00020963

Reference -
Gender M
Geographic origin Kallithea, Olympia
Geographic origin Serifos
Population Greek
Consanguinity no
Remarks -
Panel ID 00020960
Panel size 3
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     
0000006832 DNA SEQ 0 MEN1 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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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     
11 Maternal (confirmed) +/+ g.64572586dup - MEN1_000042 - - Germline ? - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1285dup, NM_130799.2:c.1270dup, NM_130800.2:c.1285dup, NM_130801.2:c.1285dup, NM_130802.2:c.1285dup, NM_130803.2:c.1285dup, NM_130804.2:c.1285dup r.(?) p.(Glu429Glyfs*25), p.(Glu424Glyfs*25)
Legend