Genomic variant #0001981250

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.107821169C>T
Reference Copied from the Exome Variant Server
DB-ID COL4A5_000048
Frequency 1/10517
Freq. EA 0/6713
Freq. AA 1/3804
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
COL4A5 NM_000495.4 ?/? c.610-13C>T r.(=) p.(=)