Individual #00019764

Reference -
Gender F
Geographic origin Ioannina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000011991 39y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006132 DNA SEQ 1 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 Maternal (confirmed) +/+ g.45797836A>C - MUTYH_000075  rs1060501333 - Germline ? - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.891+2T>G, NM_001048172.1:c.852+2T>G, NM_001048173.1:c.849+2T>G, NM_001048174.1:c.849+2T>G, NM_001128425.1:c.933+2T>G, NM_012222.2:c.924+2T>G r.spl? p.?
1 Paternal (confirmed) +/+ g.45798559_45798571del - MUTYH_000027 rs781222233 - Germline ? - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.462+19_462+31del, NM_001048172.1:c.423+19_423+31del, NM_001048173.1:c.420+19_420+31del, NM_001048174.1:c.420+19_420+31del, NM_001128425.1:c.504+19_504+31del, NM_012222.2:c.495+19_495+31del r.(=) p.(=)
Legend