An
Autosomal dominant, Autosomal recessive
mode(s) within the
Eye disorders
category
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar (Indian ClinVar data)
Chromosome-wise variant distribution in rare genetic disorders (Indian ClinVar data).
Conflicting classifications of pathogenicity
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) | Single nucleotide variant | Chr4:15991259 | Conflicting classifications of pathogenicity | Missense variant | rs761911901 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Neuberg Centre For Genomic Medicine, NCGM |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar (Indian ClinVar data)
Chromosome-wise variant distribution in rare genetic disorders (Indian ClinVar data).