Genomic variant #0000557432

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.75427865C>T
Reference Copied from the Exome Variant Server
DB-ID SV2C_000017
Frequency 1/12740
Freq. EA 0/8514
Freq. AA 1/4226
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SV2C NM_014979.1 ?/? c.290C>T r.(?) p.(Pro97Leu)