Genomic variant #0001597912

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.42274278_42274279insCC
Reference Copied from the Exome Variant Server
DB-ID ATXN7L3_000083
Frequency 2/11436
Freq. EA 1/7828
Freq. AA 1/3608
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ATXN7L3 NM_001098833.1 ?/? c.454+18_454+19insGG r.(=) p.(=)