Individual #00019822

Reference -
Gender F
Geographic origin Argolida
Geographic origin Corinth
Population Greek
Consanguinity no
Remarks -
Panel ID 00019821
Panel size 4
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     
0000006175 DNA SEQ 0 MSH2 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     
2 Paternal (confirmed) +/+ g.47672695del - MSH2_000093 rs1114167833 - Germline ? - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1285del, NM_001258281.1:c.1087del r.(?) p.(Gln429Argfs*9), p.(Gln363Argfs*9)
Legend