Variant (rsID / SNP)
rs148660051
rs148660051 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,963,510. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:215963510
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
- Allele change
- Missense_C3358Y
Associated conditions / phenotypes
Retinitis pigmentosa 39|Usher syndrome type 2A|Retinitis pigmentosa|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy|Usher syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.