Genomic variant #0000512911

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141323200T>A
Reference Copied from the Exome Variant Server
DB-ID CLGN_000093
Frequency 16/12956
Freq. EA 0/8554
Freq. AA 16/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.440A>T r.(?) p.(Asp147Val)