Genomic variant #0001601480

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060675C>T
Reference Copied from the Exome Variant Server
DB-ID MAPT_000046
Frequency 1/12968
Freq. EA 0/8578
Freq. AA 1/4390
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MAPT NM_016835.4 ?/? c.505C>T r.(?) p.(Gln169*)