Genomic variant #0001575943

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.29623288C>T
Reference Copied from the Exome Variant Server
DB-ID NF1_000246
Frequency 1145/13006
Freq. EA 1032/8600
Freq. AA 113/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_000267.3 ?/? c.4773-29550C>T r.(?) p.(Gly21Asp)
OMG NM_002544.4 ?/? c.62G>A r.(?) p.(Gly21Asp)