Variant (rsID / SNP)
rs111033258
rs111033258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLRN1, CLRN1-AS1. Location: chromosome 3, position 150,690,352. Clinical significance in the table: Pathogenic.
Reference-table entries
CLRN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:150690352
- Cytoband
- 3q25.1
- HGVS
- NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
- Allele change
- Missense_N48K
Associated conditions / phenotypes
Usher syndrome type 3|Retinitis pigmentosa|Rare genetic deafness|Retinal dystrophy|Usher syndrome type 3A|Retinitis pigmentosa|Usher syndrome type 3A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.