Genomic variant #0000048483

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32672099_32672100del
Reference Copied from the Exome Variant Server
DB-ID IQCC_000022
Frequency 1/12520
Freq. EA 1/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.187-11_187-10del r.(=) p.(=)