Genomic variant #0001107043

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.64811863_64811864del
Reference Copied from the Exome Variant Server
DB-ID SAC3D1_000018
Frequency 7/12104
Freq. EA 3/8088
Freq. AA 4/4016
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAC3D1 NM_013299.3 ?/? c.741_742del r.(?) p.(Cys248Profs*18)