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Variant (rsID / SNP)

rs116471343

CRB1

rs116471343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,396,961. 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
1:197396961
Cytoband
1q31.3
HGVS
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
Allele change
Missense_P767T

Associated conditions / phenotypes

Retinal dystrophy|Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis 1|Retinitis pigmentosa 12

Public references

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