Genomic variant #0001903478

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.19511520C>T
Reference Copied from the Exome Variant Server
DB-ID CLDN5_000010
Frequency 30/12952
Freq. EA 1/8562
Freq. AA 29/4390
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLDN5 NM_003277.3 ?/? c.514G>A r.(?) p.(Ala172Thr)