Details for Gene NPHS1

GENE NAME NPHS1
CHROMOSOME 19
ENSEMBL ID ENSG00000161270
ENTREZ ID 4868
UNIPROT ACCESSION NUMBER O60500
GO MOLECULAR FUNCTION protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1500931; R-HSA-373753
5 combinations linked to NPHS1 OLI501; OLI256; OLI321; OLI257; OLI255
5 variants linked to NPHS1 NPHS1:c.2335-1G>A, ; NPHS1:c.563A>T, p.Asn188Ile; NPHS1:c.1930+11C>A, ; NPHS1:c.791C>G, p.Pro264Arg; NPHS1:c.275-2A>C,
2 diseases linked to NPHS1 Genetic steroid-resistant nephrotic syndrome; Congenital nephrotic syndrome

Found any issues with the data on this page? Report this entry.