Genomic variant #0001208145

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53708104C>G
Reference Copied from the Exome Variant Server
DB-ID AAAS_000084
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.568G>C r.(?) p.(Asp190His)