Genomic variant #0001601493

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.44060853C>G
Reference Copied from the Exome Variant Server
DB-ID MAPT_000059
Frequency 1/12974
Freq. EA 0/8576
Freq. AA 1/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MAPT NM_016835.4 ?/? c.683C>G r.(?) p.(Ser228Cys)