Variant (rsID / SNP)
rs111033364
rs111033364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,901,574. Clinical significance in the table: Pathogenic.
Reference-table entries
USH2APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:215901574
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
- Allele change
- Nonsense_W3955X
Associated conditions / phenotypes
Usher syndrome type 2A|Congenital sensorineural hearing impairment|Retinitis pigmentosa 39|Hearing impairment|Retinitis pigmentosa|Rare genetic deafness|Usher syndrome|Usher syndrome type 2|Retinal dystrophy|Rod-cone dystrophy|USH2A-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.