Genomic variant #0000039433

Individual ID 00020874
Chromosome 17
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29686034G>A
Reference -
DB-ID NF1_000258 See all 2 reported entries
dbSNP ID rs1555537032
Variant remarks -
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 +/+ - c.8097+1G>A r.spl? p.?
NF1 NM_001042492.2 +/+ - c.8160+1G>A r.spl? p.?
NF1 NM_001128147.2 +/+ - c.*137026G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006787 DNA SEQ 0 NF1 1 Despoina Kalfakakou