Genomic variant #0001981285

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.107829855G>A
Reference Copied from the Exome Variant Server
DB-ID COL4A5_000083
Frequency 1/10561
Freq. EA 1/6726
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
COL4A5 NM_000495.4 ?/? c.1043G>A r.(?) p.(Arg348Lys)