Genomic variant #0000512890

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141320141T>C
Reference Copied from the Exome Variant Server
DB-ID CLGN_000081
Frequency 4/13006
Freq. EA 0/8600
Freq. AA 4/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.748A>G r.(?) p.(Lys250Glu)