Genomic variant #0001601478

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060582C>T
Reference Copied from the Exome Variant Server
DB-ID MAPT_000044
Frequency 4/13004
Freq. EA 0/8598
Freq. AA 4/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MAPT NM_016835.4 ?/? c.412C>T r.(?) p.(Arg138*)