Genomic variant #0000048506

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32672904G>A
Reference Copied from the Exome Variant Server
DB-ID IQCC_000053
Frequency 3/13006
Freq. EA 2/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.622G>A r.(?) p.(Val208Met)