Variant (rsID / SNP)
rs114846212
rs114846212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,313,422. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CRB1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:197313422
- Cytoband
- 1q31.3
- HGVS
- NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
- Allele change
- Missense_E153K
Associated conditions / phenotypes
Leber congenital amaurosis 8|Retinitis pigmentosa|Pigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.