Individual #00021955

Reference -
Gender M
Geographic origin -
Geographic origin -
Population -
Consanguinity no
Remarks -
Panel ID 00019679
Panel size 1
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     
0000006867 DNA SEQ - MLH1 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     
3 Maternal (confirmed) +?/+? g.37035159G>A Thodi et al (2010)   MLH1_000128 rs267607710 - Germline ? - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.116+5G>A, NM_001167617.1:c.-396G>A, NM_001167618.1:c.-825G>A, NM_001167619.1:c.-738G>A, NM_001258271.1:c.116+5G>A, NM_001258273.1:c.-517+5G>A, NM_001258274.1:c.-975G>A r.spl?, r.(=) p.?, p.(=)
Legend