Individual #00019962

Reference -
Gender F
Geographic origin Dokana, Cythera
Geographic origin Kalavryta
Population Greek
Consanguinity no
Remarks -
Panel ID 00019959
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     
0000006267 DNA SEQ 0 MSH6 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.48032823C>A - MSH6_000040 rs1572742021 - Germline ? - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3623C>A, NM_001281492.1:c.3233C>A, NM_001281493.1:c.2717C>A, NM_001281494.1:c.2717C>A r.(?) p.(Ser1208Tyr), p.(Ser1078Tyr), p.(Ser906Tyr)
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