Individual #00020000

Reference -
Gender F
Geographic origin Vorizia, Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 6
Diseases CRC, Polyposis, TRC
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     
0000012228 54y - - Yes Yes Yes - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012230 72y - - - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012229 54y - - Adenomatous Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006287 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 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