Individual #00019418

Reference -
Gender F
Geographic origin Lefkada
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00019417
Panel size 2
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005192 DNA SEQ 0 NBN, PMS2 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     
8 Parent #2 +/+ g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline ? - - - Despoina Kalfakakou NBN - NM_002485.4:c.657_661del r.(?) p.(Lys219Asnfs*16)
Legend