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Variant (rsID / SNP)

rs62636267

CRB1

rs62636267 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,396,677. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CRB1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:197396677
Cytoband
1q31.3
HGVS
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
Allele change
Missense_M672T

Associated conditions / phenotypes

Leber congenital amaurosis 8|Retinitis pigmentosa 12|Leber congenital amaurosis 8

Public references

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