Genomic variant #0000512932

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141331045C>A
Reference Copied from the Exome Variant Server
DB-ID CLGN_000114
Frequency 3/12988
Freq. EA 0/8584
Freq. AA 3/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.223G>T r.(?) p.(Val75Phe)