Genomic variant #0000512886

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141320045_141320046del
Reference Copied from the Exome Variant Server
DB-ID CLGN_000073
Frequency 22/12520
Freq. EA 12/8254
Freq. AA 10/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.843_844del r.(?) p.(Arg281Serfs*5)