Genomic variant #0001601512

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.44061189C>T
Reference Copied from the Exome Variant Server
DB-ID MAPT_000077
Frequency 1/12770
Freq. EA 1/8480
Freq. AA 0/4290
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MAPT NM_016835.4 ?/? c.1019C>T r.(?) p.(Pro340Leu)