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Variant (rsID / SNP)

rs876657731

USH2A

rs876657731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,246,438. 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
1:216246438
Cytoband
1q41
HGVS
NM_206933.4(USH2A):c.5776+1G>A
Allele change
Silent

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.