Variant (rsID / SNP)
rs111033272
rs111033272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,498,841. Clinical significance in the table: Pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:216498841
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.949C>A (p.Arg317=)
- Allele change
- Synonymous_R317R
Associated conditions / phenotypes
Usher syndrome type 2A|Pigmentary retinopathy|Abnormal macular morphology|Blindness|Retinal pigment epithelial atrophy|Rod-cone dystrophy|Retinitis pigmentosa 39|Usher syndrome type 2A|Rare genetic deafness|Retinitis pigmentosa 39|Retinal dystrophy|Usher syndrome type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.