Genomic variant #0000016853

Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36340187G>C
DNA change (hg38) g.35849285G>C
Published as nt791 (C→G): P264R
ISCN -
DB-ID NPHS1_000006 See all 9 reported entries
Variant remarks 1 English/Indian CNF patient (com-het)
Reference PubMed: Koziell et al. 2002
ClinVar ID -
dbSNP ID rs34982899
Origin SUMMARY record
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.01599 View details
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 +?/+? 07 c.791C>G - r.(791c>g) p.(Pro264Arg)