Genomic variant #0000021639

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.12785415C>T
Reference Copied from the Exome Variant Server
DB-ID AADACL3_000051
Frequency 1/11984
Freq. EA 0/8212
Freq. AA 1/3772
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AADACL3 NM_001103169.1 ?/? c.295C>T r.(?) p.(Gln99*)