Genomic variant #0001575930

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.29622542G>A
Reference Copied from the Exome Variant Server
DB-ID NF1_000239
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 ?/? c.4772+30185G>A r.(?) p.(Pro270Ser)
OMG NM_002544.4 ?/? c.808C>T r.(?) p.(Pro270Ser)