Genomic variant #0000512930

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141330999A>G
Reference Copied from the Exome Variant Server
DB-ID CLGN_000112
Frequency 1/12990
Freq. EA 0/8588
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.269T>C r.(?) p.(Ile90Thr)