Genomic variant #0000512934

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.141331691_141331692insTGAA
Reference Copied from the Exome Variant Server
DB-ID CLGN_000116
Frequency 1/12498
Freq. EA 0/8232
Freq. AA 1/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLGN NM_004362.2 ?/? c.218+15_218+16insTTCA r.(=) p.(=)