Genomic variant #0000512907

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141323125T>A
Reference Copied from the Exome Variant Server
DB-ID CLGN_000089
Frequency 1/12910
Freq. EA 0/8530
Freq. AA 1/4380
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.501+14A>T r.(=) p.(=)