Genomic variant #0000048538

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32673625G>T
Reference Copied from the Exome Variant Server
DB-ID IQCC_000067
Frequency 7/13006
Freq. EA 0/8600
Freq. AA 7/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.1343G>T r.(?) p.(Gly448Val)