Individual #00019645

Reference -
Gender M
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol
Owner name Despoina Kalfakakou


Phenotypes

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011857 46y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006010 DNA MLPA 1 MUTYH 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     
1 Parent #2 +/+ g.45796933_45796935del - MUTYH_000069 rs587778541 - Germline ? - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1353_1355del, NM_001048172.1:c.1314_1316del, NM_001048173.1:c.1311_1313del, NM_001048174.1:c.1311_1313del, NM_001128425.1:c.1395_1397del, NM_012222.2:c.1386_1388del r.(?) p.(Val452del), p.(Val439del), p.(Val438del), p.(Val466del), p.(Val463del)
Legend