rs386833880
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs386833880(A;A) |
| Make rs386833880(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 35848102 |
| Gene | NPHS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833880 |
| dbSNP (classic) | rs386833880 |
| ClinGen | rs386833880 |
| ebi | rs386833880 |
| HLI | rs386833880 |
| Exac | rs386833880 |
| Gnomad | rs386833880 |
| Varsome | rs386833880 |
| LitVar | rs386833880 |
| Map | rs386833880 |
| PheGenI | rs386833880 |
| Biobank | rs386833880 |
| 1000 genomes | rs386833880 |
| hgdp | rs386833880 |
| ensembl | rs386833880 |
| geneview | rs386833880 |
| scholar | rs386833880 |
| rs386833880 | |
| pharmgkb | rs386833880 |
| gwascentral | rs386833880 |
| openSNP | rs386833880 |
| 23andMe | rs386833880 |
| SNPshot | rs386833880 |
| SNPdbe | rs386833880 |
| MSV3d | rs386833880 |
| GWAS Ctlg | rs386833880 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833880(A;A) |
| Alt | rs386833880(A;A) |
| Reference | Rs386833880(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Finnish congenital nephrotic syndrome |
| Variation | info |
| Gene | NPHS1 |
| CLNDBN | Finnish congenital nephrotic syndrome |
| Reversed | 1 |
| HGVS | NC_000019.9:g.36339004C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000049851.2, |
[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
[PMID 15780077] Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.
[PMID 18503012
] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
[PMID 18614772] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
[PMID 19194555] Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
[PMID 20172850] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
