Finnish congenital nephrotic syndrome
An Autosomal recessive mode(s) within the Nephrological disorders category
Likely pathogenic
1
Pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_004646.4(NPHS1):c.3061G>T (p.Asp1021Tyr) | Single nucleotide variant | Chr19:35839285 | Uncertain significance | Missense variant |
.Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences |
|
| NM_004646.4(NPHS1):c.2206G>A (p.Val736Met) | Single nucleotide variant | Chr19:35844109 | Likely pathogenic | Missense variant | rs1131692245 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) | Single nucleotide variant | Chr19:35848708 | Pathogenic/Likely pathogenic | Missense variant | rs386833865 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) | Single nucleotide variant | Chr19:35831056 | Pathogenic | Nonsense | rs267606919 |
.Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution