Genomic variant #0001955140

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.17394278C>T
Reference Copied from the Exome Variant Server
DB-ID NHS_000003
Frequency 1/9553
Freq. EA 1/6011
Freq. AA 0/3542
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 ?/? c.398C>T r.(?) p.(Ala133Val)