Genomic variant #0001601481

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060704_44060705del
Reference Copied from the Exome Variant Server
DB-ID MAPT_000047
Frequency 3/12446
Freq. EA 0/8216
Freq. AA 3/4230
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MAPT NM_016835.4 ?/? c.534_535del r.(?) p.(Glu179Glyfs*7)