Genomic variant #0001575933

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.29622641A>G
Reference Copied from the Exome Variant Server
DB-ID NF1_000242
Frequency 2/13006
Freq. EA 0/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 ?/? c.4773-30197A>G r.(?) p.(Tyr237His)
OMG NM_002544.4 ?/? c.709T>C r.(?) p.(Tyr237His)