Individual #00019800

Reference -
Gender F
Geographic origin Evrytania
Geographic origin Lamia
Population Greek
Consanguinity no
Remarks -
Panel ID 00019797
Panel size 8
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     
0000006161 DNA MLPA 0 MSH2 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     
2 Maternal (confirmed) +/+ g.47686783-47697222del - MSH2_000108 - - Germline - MSH2 exons 9-10 deletion - - Despoina Kalfakakou MSH2 9_10, NM_000251.2:c.1387-3387_1662-882del, NM_001258281.1:c.1189-3387_1464-882del r.(?) p.(Val463_Ser554del)  , p.(Val397Glnfs*7)
Legend