Variant (rsID / SNP)

rs41308425

rs41308425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,011,332. 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: 1:216011332
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.9371+1G>C
Allele change: Silent

Associated conditions / phenotypes

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

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.