Variant (rsID / SNP)
rs137853137
rs137853137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,396,856. Clinical significance in the table: Pathogenic.
Reference-table entries
CRB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:197396856
- Cytoband
- 1q31.3
- HGVS
- NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
- Allele change
- Nonsense_K732X
Associated conditions / phenotypes
Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Retinal dystrophy|Retinitis pigmentosa|Leber congenital amaurosis 8|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.