Variant (rsID / SNP)
rs368049814
rs368049814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,960,057. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
USH2AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:215960057
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
- Allele change
- Missense_E3448K
Associated conditions / phenotypes
Retinitis pigmentosa 39|Retinitis pigmentosa|Usher syndrome type 2A|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.