Variant (rsID / SNP)
rs80338902
rs80338902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,420,460. Clinical significance in the table: Pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:216420460
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
- Allele change
- Missense_C759F
Associated conditions / phenotypes
Retinitis pigmentosa 39|Retinitis pigmentosa|Usher syndrome type 2A|USH2A-Related Disorders|Retinal dystrophy|Usher syndrome|Inborn genetic diseases|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 39|Usher syndrome type 2A|Ear malformation|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.