Individual #00019771

Reference -
Gender M
Geographic origin Mytilene
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases ColPol, CRC
Owner name Despoina Kalfakakou


Phenotypes

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000011997 41y - - No No No - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011998 45y - - - Despoina Kalfakakou
0000011999 56y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006137 DNA SEQ 1 MUTYH 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     
1 Both (homozygous) +/+ g.45798117C>T - MUTYH_000015 rs140342925 - Germline ? - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.692G>A, NM_001048172.1:c.653G>A, NM_001048173.1:c.650G>A, NM_001048174.1:c.650G>A, NM_001128425.1:c.734G>A, NM_012222.2:c.725G>A r.(?) p.(Arg231His), p.(Arg218His), p.(Arg217His), p.(Arg245His), p.(Arg242His)
Legend