Genomic variant #0000512899

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141321505_141321506insTATA
Reference Copied from the Exome Variant Server
DB-ID CLGN_000076
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     
CLGN NM_004362.2 ?/? c.694+5_694+6insTATA r.spl? p.?