Variant (rsID / SNP)
rs527236139
rs527236139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,933,077. 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
- 1:215933077
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
- Allele change
- Missense_R3719H
Associated conditions / phenotypes
Usher syndrome type 2A|Retinitis pigmentosa|Retinitis pigmentosa 39|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.