Variant (rsID / SNP)
rs149222801
rs149222801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH2A. Location: chromosome 1, position 215,823,962. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
USH2ABenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:215823962
- Cytoband
- 1q41
- HGVS
- NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
- Allele change
- Missense_S4772F
Associated conditions / phenotypes
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.