Genomic variant #0001903469

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.19511132_19511134del
Reference Copied from the Exome Variant Server
DB-ID CLDN5_000001
Frequency 22/12088
Freq. EA 18/8008
Freq. AA 4/4080
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CLDN5 NM_003277.3 ?/? c.900_902del r.(?) p.(Lys300del)