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Variant (rsID / SNP)

rs62645748

CRB1

rs62645748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,403,836. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CRB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:197403836
Cytoband
1q31.3
HGVS
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
Allele change
Missense_C924Y

Associated conditions / phenotypes

Leber congenital amaurosis 8|Retinitis pigmentosa 12|Retinal dystrophy|Retinitis pigmentosa 12|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Pigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis 8|CRB1-Related Disorders|Retinitis pigmentosa|Pigmented paravenous retinochoroidal atrophy|Leber congenital amaurosis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.