Variant (rsID / SNP)

rs62636291

rs62636291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRB1. Location: chromosome 1, position 197,404,534. Clinical significance in the table: Pathogenic.

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Reference-table entries

CRB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:197404534
Cytoband: 1q31.3
HGVS: NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)
Allele change: Missense_C1157R

Associated conditions / phenotypes

Retinitis pigmentosa 12

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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