Variant (rsID / SNP)
rs61748442
rs61748442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRX. Location: chromosome 19, position 48,342,749. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CRXConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:48342749
- Cytoband
- 19q13.33
- HGVS
- NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
- Allele change
- Missense_Y142C
Associated conditions / phenotypes
Retinitis pigmentosa|Leber congenital amaurosis 1|Leber congenital amaurosis 7|Cone-rod dystrophy 2|Leber congenital amaurosis 7|Cone-rod dystrophy 2|Autosomal dominant retinitis pigmentosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.