Genomic variant #0000557485

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.75490758C>T
Reference Copied from the Exome Variant Server
DB-ID SV2C_000068
Frequency 1/12312
Freq. EA 1/8316
Freq. AA 0/3996
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SV2C NM_014979.1 ?/? c.595C>T r.(?) p.(Leu199Phe)