NPHS1 Chromosome 19
NPHS1 adhesion molecule, nephrin
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What This Gene Does
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Fibronectin type III domain containing|V-set domain containing|C2-set domain containing"
Locus Type
gene with protein product
Location
19q13.12
Ensembl
ENSG00000161270
Associated Conditions (19)
Corticosteroids response
Finnish congenital nephrotic syndrome
NPHS1-related disorder
Nephrotic syndrome
Congenital nephrotic syndrome
Focal segmental glomerulosclerosis
Inborn genetic diseases
Proteinuria
Familial idiopathic steroid-resistant nephrotic syndrome
Kidney disorder
Gastric cancer
Microscopic hematuria
Unexplained young onset end-stage renal disease
Atypical hemolytic-uremic syndrome
Congenital and infantile nephrotic syndrome
Steroid-resistant nephrotic syndrome
Nephrotic range proteinuria
Infantile Nephrotic syndrome
See cases
Key Variants
RS1972875644
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1972884983
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1973075631
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1000712587
Conflicting classifications of pathogenicity
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
Health Risk
RS1131691606
Conflicting classifications of pathogenicity
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
Health Risk
RS114112112
Conflicting classifications of pathogenicity
Finnish congenital nephrotic syndrome, NPHS1-related disorder, Finnish congenital nephrotic syndrome
Health Risk
RS114203578
Conflicting classifications of pathogenicity
Finnish congenital nephrotic syndrome, Nephrotic syndrome, Finnish congenital nephrotic syndrome
Health Risk
RS114385015
Conflicting classifications of pathogenicity
Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis
Health Risk
RS114428177
Conflicting classifications of pathogenicity
Inborn genetic diseases, Finnish congenital nephrotic syndrome, Inborn genetic diseases
Health Risk
RS114595892
Conflicting classifications of pathogenicity
Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis
Health Risk
RS114615449
Conflicting classifications of pathogenicity
Proteinuria, Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
Health Risk
RS114728208
Conflicting classifications of pathogenicity
Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis
Health Risk
All Variants (533)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1972875644 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS1972884983 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS1973075631 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS1000712587 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS1131691606 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS114112112 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, NPHS1-related disorder, Finnish congenital nephrotic syndrome |
| RS114203578 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS114385015 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS114428177 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Finnish congenital nephrotic syndrome, Inborn genetic diseases |
| RS114595892 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS114615449 | Health Risk | Conflicting classifications of pathogenicity | Proteinuria, Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome |
| RS114728208 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS114849139 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS114879227 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS114896482 | Health Risk | Conflicting classifications of pathogenicity | Familial idiopathic steroid-resistant nephrotic syndrome, Finnish congenital nephrotic syndrome, Familial idiopathic steroid-resistant nephrotic syndrome |
| RS115308424 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS115333628 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, NPHS1-related disorder |
| RS115444936 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome |
| RS115489112 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, NPHS1-related disorder, Congenital nephrotic syndrome |
| RS116459838 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS116617171 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS116700257 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, NPHS1-related disorder, Finnish congenital nephrotic syndrome |
| RS116744687 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Congenital nephrotic syndrome |
| RS1186290245 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS1223946044 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS138092189 | Health Risk | Conflicting classifications of pathogenicity | NPHS1-related disorder, NPHS1-related disorder |
| RS138173172 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome, Kidney disorder |
| RS139954720 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS140404523 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Congenital nephrotic syndrome |
| RS140626538 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS140673499 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS140808195 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS141141839 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS141886345 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis, NPHS1-related disorder, Focal segmental glomerulosclerosis |
| RS142008044 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS143003940 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Inborn genetic diseases, Congenital nephrotic syndrome |
| RS143145248 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome |
| RS1431580668 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS144203682 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome |
| RS145125791 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS145554982 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Gastric cancer, Congenital nephrotic syndrome |
| RS145683325 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome |
| RS146290709 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS146400394 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS147569168 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome, NPHS1-related disorder |
| RS147641617 | Health Risk | Conflicting classifications of pathogenicity | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS148115230 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS149598144 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, NPHS1-related disorder |
| RS151121915 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS187501631 | Health Risk | Conflicting classifications of pathogenicity | Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |