Genomic variant #0001814908

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.56435971G>T
Reference Copied from the Exome Variant Server
DB-ID NLRP13_000188
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NLRP13 NM_176810.2 ?/? c.442C>A r.(?) p.(Leu148Ile)