Variant (rsID / SNP)
rs111033280
rs111033280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,500,979. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:216500979
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
- Allele change
- Missense_G268R
Associated conditions / phenotypes
Usher syndrome|Retinitis pigmentosa 39|Usher syndrome type 2A|Usher syndrome type 2|Retinal dystrophy|Usher syndrome type 2A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.