Genomic variant #0001903475

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.19511468C>T
Reference Copied from the Exome Variant Server
DB-ID CLDN5_000007
Frequency 1/12812
Freq. EA 1/8474
Freq. AA 0/4338
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLDN5 NM_003277.3 ?/? c.566G>A r.(?) p.(Cys189Tyr)