Individual #00019853

Reference -
Gender F
Geographic origin Antalya, Asia Minor
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel ID 00019851
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     
0000012067 24y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006199 DNA SEQ 0 SMAD4 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     
18 Paternal (confirmed) +/+ g.48604733_48604736del - SMAD4_000016 - - Germline ? - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1555_1558del r.(?) p.(Glu520Hisfs*16)
Legend