Variant (rsID / SNP)

rs192524347

rs192524347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,462,716. Clinical significance in the table: Uncertain significance.

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Reference-table entries

USH2AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:216462716
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
Allele change: Missense_R626Q

Associated conditions / phenotypes

Retinitis pigmentosa 39|Usher syndrome type 2A|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.