Variant (rsID / SNP)

rs121912599

rs121912599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,498,834. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

USH2ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:216498834
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
Allele change: Missense_C319Y

Associated conditions / phenotypes

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

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.