Variant (rsID / SNP)

rs111033386

rs111033386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,219,874. 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: 1:216219874
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
Allele change: Nonsense_W2075X

Associated conditions / phenotypes

Rare genetic deafness|Retinal dystrophy|Usher syndrome type 2A

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.