Crigler-Najjar syndrome type 1
An Autosomal recessive mode(s) within the Metabolic disorders category
Conflicting classifications of pathogenicity; drug response; other
1
Conflicting classifications of pathogenicity; other
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| UGT1A1*28 | Microsatellite | Chr2:233760233 - 233760234 | Conflicting classifications of pathogenicity; drug response; other | Intron variant | rs3064744 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) | Duplication | Chr2:233760634 - 233760635 | Pathogenic/Likely pathogenic | Frameshift variant|intron variant | rs748219743 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) | Single nucleotide variant | Chr2:233768226 | Conflicting classifications of pathogenicity; other | Missense variant | rs34946978 |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution