Genomic variant #0000512860

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141315152T>G
Reference Copied from the Exome Variant Server
DB-ID CLGN_000042
Frequency 26/13006
Freq. EA 24/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.1193A>C r.(?) p.(Glu398Ala)