Variant (rsID / SNP)
rs62636275
rs62636275 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,404,300. Clinical significance in the table: Pathogenic.
Reference-table entries
CRB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:197404300
- Cytoband
- 1q31.3
- HGVS
- NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
- Allele change
- Missense_G1079R
Associated conditions / phenotypes
Leber congenital amaurosis 8|Retinitis pigmentosa 12|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Early-onset retinal dystrophy|Leber congenital amaurosis|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.