Variant (rsID / SNP)
rs121912600
rs121912600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 216,497,582. Clinical significance in the table: Pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:216497582
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
- Allele change
- Missense_C419F
Associated conditions / phenotypes
Usher syndrome type 2A|Usher syndrome|USH2A-Related Disorders|Rare genetic deafness|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.