Individual #00020642

Reference -
Gender F
Geographic origin Rentina, Karditsa
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
Diseases BrCa, TRC
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000013064 60y - - - - Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013063 77y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006675 DNA SEQ 1 RET 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     
10 Maternal (inferred) +/+ g.43614996G>A - RET_000112 rs79658334 - Germline ? - - - Despoina Kalfakakou RET - NM_020630.4:c.2410G>A, NM_020975.4:c.2410G>A r.(?) p.(Val804Met)
Legend