Genomic variant #0000048463

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32671314C>G
Reference Copied from the Exome Variant Server
DB-ID IQCC_000005
Frequency 1/12982
Freq. EA 1/8584
Freq. AA 0/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.32C>G r.(?) p.(Ser11Cys)