Genomic variant #0001936111

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.43089410_43089411del
Reference Copied from the Exome Variant Server
DB-ID A4GALT_000029
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
A4GALT NM_017436.4 ?/? c.547_548del r.(?) p.(Met183Valfs*99)