Variant (rsID / SNP)
rs398124618
rs398124618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,853,550. Clinical significance in the table: Pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 1:215853550
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
Associated conditions / phenotypes
Retinitis pigmentosa 39|Retinal dystrophy|Usher syndrome type 2A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.