Variant (rsID / SNP)
rs727503731
rs727503731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,348,710. Clinical significance in the table: Pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 1:216348710
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.4510dup (p.Arg1504fs)
Associated conditions / phenotypes
Rare genetic deafness|Retinitis pigmentosa|Usher syndrome|Usher syndrome type 2A|Retinitis pigmentosa 39|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.