Genomic variant #0000094315

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.100336374C>T
Reference Copied from the Exome Variant Server
DB-ID AGL_000060
Frequency 1/12896
Freq. EA 1/8558
Freq. AA 0/4338
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AGL NM_000028.2 ?/? c.907C>T r.(?) p.(Gln303*)