Individual #00020003

Reference -
Gender M
Geographic origin Vorizia, Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00020000
Panel size 5
Diseases ColPol, Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012236 54y - - - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012235 40y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006290 DNA SEQ 0 MUTYH 2 Despoina Kalfakakou



Variants

2 entries on 1 page. Showing entries 1 - 2.
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.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145G>A, NM_001048172.1:c.1106G>A, NM_001048173.1:c.1103G>A, NM_001048174.1:c.1103G>A, NM_001128425.1:c.1187G>A, NM_012222.2:c.1178G>A r.(?) p.(Gly382Asp), p.(Gly369Asp), p.(Gly368Asp), p.(Gly396Asp), p.(Gly393Asp)
1 Parent #2 +/+ g.45797507G>A - MUTYH_000072  rs587780082 - Germline ? - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.970C>T, NM_001048172.1:c.931C>T, NM_001048173.1:c.928C>T, NM_001048174.1:c.928C>T, NM_001128425.1:c.1012C>T, NM_012222.2:c.1003C>T r.(?) p.(Gln324*), p.(Gln311*), p.(Gln310*), p.(Gln338*), p.(Gln335*)
Legend