Genomic variant #0000512939

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141334206A>T
Reference Copied from the Exome Variant Server
DB-ID CLGN_000121
Frequency 2/13002
Freq. EA 2/8596
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.27T>A r.(?) p.(Cys9*)