Variant (rsID / SNP)

rs111033385

rs111033385 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,848,123. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

USH2APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:215848123
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
Allele change: Nonsense_S4377X

Associated conditions / phenotypes

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

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.