Genomic variant #0000048462

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32671289C>T
Reference Copied from the Exome Variant Server
DB-ID IQCC_000003
Frequency 2/12964
Freq. EA 0/8582
Freq. AA 2/4382
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.7C>T r.(?) p.(Pro3Ser)