Syndromic microphthalmia type 5
An Autosomal dominant mode(s) within the Eye disorders category
Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_021728.4(OTX2):c.278G>T (p.Trp93Leu) | Single nucleotide variant | Chr14:56802351 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2139529394 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
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).