Genomic variant #0000179801

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.222846650C>T
Reference Copied from the Exome Variant Server
DB-ID AIDA_000010
Frequency 1/13000
Freq. EA 0/8594
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AIDA NM_022831.2 ?/? c.706+5G>A r.spl? p.?