Variant (rsID / SNP)
rs80338903
rs80338903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,420,437. Clinical significance in the table: Pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:216420437
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.2299del (p.Glu767fs)
Associated conditions / phenotypes
Usher syndrome type 2A|Retinitis pigmentosa|Retinitis pigmentosa 39|Retinal dystrophy|Usher syndrome|Inborn genetic diseases|13 conditions|Macular dystrophy|Cone-rod dystrophy|Congenital stationary night blindness|Rare genetic deafness|Usher syndrome|USH2A-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.