Genomic variant #0001597859

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.42272146C>T
Reference Copied from the Exome Variant Server
DB-ID ATXN7L3_000030
Frequency 1/12300
Freq. EA 1/8318
Freq. AA 0/3982
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATXN7L3 NM_001098833.1 ?/? c.727G>A r.(?) p.(Gly243Arg)