Genomic variant #0001597932

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.42274997G>T
Reference Copied from the Exome Variant Server
DB-ID ATXN7L3_000103
Frequency 2/12402
Freq. EA 0/8376
Freq. AA 2/4026
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATXN7L3 NM_001098833.1 ?/? c.153C>A r.(?) p.(Asp51Glu)