Individual #00020661

Reference -
Gender F
Geographic origin Albania
Geographic origin -
Population Albanian
Consanguinity no
Remarks -
Panel size 4
Diseases ADNM, HypPT
Owner name Despoina Kalfakakou


Phenotypes

Adenoma (ADNM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013126 42y - - - Despoina Kalfakakou
0000013127 43y - - - Despoina Kalfakakou

Hyperparathyroidism (HypPT)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013128 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006690 DNA SEQ 1 MEN1 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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     
11 Maternal (inferred) +/+ g.64577269del - MEN1_000044 - - Germline ? - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.313del, NM_130799.2:c.313del, NM_130800.2:c.313del, NM_130801.2:c.313del, NM_130802.2:c.313del, NM_130803.2:c.313del, NM_130804.2:c.313del r.(?) p.(Leu105Serfs*14)
Legend