Genomic variant #0000048481

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32672069G>C
Reference Copied from the Exome Variant Server
DB-ID IQCC_000018
Frequency 3/12986
Freq. EA 0/8594
Freq. AA 3/4392
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.187-41G>C r.(=) p.(=)