Individual #00019711

Reference -
Gender M
Geographic origin Drama
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006083 DNA MLPA 1 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 Parent #2 +/+ g.(?_47630206)_(47657081_47672686)del - MSH2_000106 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - MSH2 exons 1-6 duplication - - Despoina Kalfakakou MSH2 1_7, NM_000251.2:c.(?), NM_001258281.1:c.(?) r.(?) p.(?)
Legend