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).
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) | Single nucleotide variant | Chr2:38071185 | Pathogenic/Likely pathogenic | Missense variant | rs56010818 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM .Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
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).