Genomic variant #0001981227

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.107807201_107807204del
Reference Copied from the Exome Variant Server
DB-ID COL4A5_000025
Frequency 1/10201
Freq. EA 0/6480
Freq. AA 1/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
COL4A5 NM_000495.4 ?/? c.276+45_276+48del r.(=) p.(=)