Individual #00019985

Reference -
Gender F
Geographic origin Kayseri, Cappadocia
Geographic origin Kounavi, Crete
Population Greek
Consanguinity no
Remarks -
Panel size 4
Diseases Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012209 63y - - Tubulovillous Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006277 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.45797187_45797188dup - MUTYH_000071 rs587780078 - Germline ? - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1227_1228dup, NM_001048172.1:c.1146_1147dup, NM_001048173.1:c.1143_1144dup, NM_001048174.1:c.1143_1144dup, NM_001128425.1:c.1227_1228dup, NM_012222.2:c.1218_1219dup r.(?) p.(Leu410Hisfs*29), p.(Glu383Glyfs*43), p.(Glu382Glyfs*43), p.(Glu410Glyfs*43), p.(Glu407Glyfs*43)
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)
Legend