Variant (rsID / SNP)
rs62636273
rs62636273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,398,590. Clinical significance in the table: Pathogenic.
Reference-table entries
CRB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:197398590
- Cytoband
- 1q31.3
- HGVS
- NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
- Allele change
- Nonsense_C872X
Associated conditions / phenotypes
Macular dystrophy|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinal dystrophy|Leber congenital amaurosis 8|Leber congenital amaurosis|Retinitis pigmentosa 12|Retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.