Genomic variant #0001756550

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340187G>C
Reference Copied from the Exome Variant Server
DB-ID NPHS1_000225
Frequency 208/13006
Freq. EA 135/8600
Freq. AA 73/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NPHS1 NM_004646.3 ?/? c.791C>G r.(?) p.(Pro264Arg)