Genomic variant #0001601486

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060747C>A
Reference Copied from the Exome Variant Server
DB-ID MAPT_000052
Frequency 2/12972
Freq. EA 0/8586
Freq. AA 2/4386
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MAPT NM_016835.4 ?/? c.577C>A r.(?) p.(Leu193Ile)