Genomic variant #0001208176

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53715112C>G
Reference Copied from the Exome Variant Server
DB-ID AAAS_000115
Frequency 1/13002
Freq. EA 1/8598
Freq. AA 0/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAAS NM_001173466.1 ?/? c.123+15G>C r.(=) p.(=)