Variant (rsID / SNP)
rs144436610
rs144436610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,391,061. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CRB1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:197391061
- Cytoband
- 1q31.3
- HGVS
- NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
- Allele change
- Synonymous_P632P
Associated conditions / phenotypes
Leber congenital amaurosis 8|Pigmented paravenous retinochoroidal atrophy|Retinitis pigmentosa|Retinitis pigmentosa 12|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.