Genomic variant #0001597879

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.42272788G>A
Reference Copied from the Exome Variant Server
DB-ID ATXN7L3_000050
Frequency 1/12396
Freq. EA 0/8372
Freq. AA 1/4024
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATXN7L3 NM_001098833.1 ?/? c.620C>T r.(?) p.(Thr207Met)