Variant (rsID / SNP)

rs1805050

rs1805050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,496,947. Clinical significance in the table: Benign.

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Reference-table entries

USH2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:216496947
Cytoband: 1q41
HGVS: NM_206933.4(USH2A):c.1419C>T (p.Thr473=)
Allele change: Synonymous_T473T

Associated conditions / phenotypes

Retinitis pigmentosa|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.