Familial acute necrotizing encephalopathy
An Autosomal dominant mode(s) within the Neuronal disorders category
Benign/Likely benign
1
Likely pathogenic
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg) | Single nucleotide variant | Chr2:108765788 | Likely pathogenic | Missense variant | rs1060499624 |
.Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals |
| NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) | Single nucleotide variant | Chr2:108768038 | Benign/Likely benign | Missense variant | rs140280672 |
.Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals |
| NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) | Single nucleotide variant | Chr2:108751993 | Pathogenic/Likely pathogenic | Missense variant | rs121434502 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Suma Genomics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution