Genomic variant #0000048482

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32672077C>T
Reference Copied from the Exome Variant Server
DB-ID IQCC_000020
Frequency 1/12994
Freq. EA 0/8596
Freq. AA 1/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.187-33C>T r.(=) p.(=)