Genomic variant #0000512908

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141323155G>A
Reference Copied from the Exome Variant Server
DB-ID CLGN_000090
Frequency 2/12972
Freq. EA 0/8568
Freq. AA 2/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.485C>T r.(?) p.(Thr162Ile)