Genomic variant #0001208109

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53702348A>C
Reference Copied from the Exome Variant Server
DB-ID AAAS_000048
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAAS NM_001173466.1 ?/? c.989-36T>G r.(=) p.(=)