Variant (rsID / SNP)

rs111033273

rs111033273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,495,263. Clinical significance in the table: Pathogenic.

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Reference-table entries

USH2APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:216495263
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
Allele change: Missense_C536R

Associated conditions / phenotypes

Rare genetic deafness|Retinitis pigmentosa 39|Retinitis pigmentosa|Usher syndrome type 2A|Retinal dystrophy

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.