Variant (rsID / SNP)

rs111033267

rs111033267 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLRN1. Location: chromosome 3, position 150,690,307. Clinical significance in the table: Pathogenic.

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Reference-table entries

CLRN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:150690307
Cytoband: 3q25.1
HGVS: NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
Allele change: Nonsense_Y63X

Associated conditions / phenotypes

Usher syndrome type 3|Retinitis pigmentosa|Rare genetic deafness|Usher syndrome type 3A

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.