Genomic variant #0000037375

Individual ID 00019418
Chromosome 8
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.90983442_90983446del
Reference Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020
DB-ID NBN_000002 See all 7 reported entries
dbSNP ID  rs587776650
Variant remarks Low risk allele
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00087
Allele Count 5
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NBN NM_002485.4 +/+ - c.657_661del r.(?) p.(Lys219Asnfs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005192 DNA SEQ 0 NBN, PMS2 1 Despoina Kalfakakou