Genomic variant #0000048480

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32671940del
Reference Copied from the Exome Variant Server
DB-ID IQCC_000016
Frequency 1/12520
Freq. EA 0/8254
Freq. AA 1/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.186+42del r.(=) p.(=)