Individual #00020905

Reference -
Gender F
Geographic origin Isaakio, Didymoteicho
Geographic origin Didymoteicho
Population Greek
Consanguinity no
Remarks -
Panel ID 00020904
Panel size 3
Diseases CAL, NF
Owner name Despoina Kalfakakou


Phenotypes

Café au Lait spots (CAL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012775 - - - - Despoina Kalfakakou

Neurofibromas (NF)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012776 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006805 DNA SEQ 0 NF1 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     
17 Parent #2 +/+ g.29588764del - NF1_000303 - - Germline ? - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4550del, NM_001042492.2:c.4613del, NM_001128147.2:c.*39756del r.(?), r.(=) p.(Lys1517Argfs*36), p.(Lys1538Argfs*36), p.(=)
Legend