Variant (rsID / SNP)

rs111033282

rs111033282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,420,214. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

USH2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:216420214
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
Allele change: Missense_S841Y

Associated conditions / phenotypes

Retinitis pigmentosa|Hearing impairment|Progressive cone dystrophy (without rod involvement)|Usher syndrome type 2A|Usher syndrome

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.