Variant (rsID / SNP)
rs4388421
rs4388421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1L1. Location: chromosome 8, position 10,474,042. Clinical significance in the table: Benign.
Reference-table entries
RP1L1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:10474042
- Cytoband
- 8p23.1
- HGVS
- NM_178857.6(RP1L1):c.665A>C (p.His222Pro)
- Allele change
- Missense_H222P
Associated conditions / phenotypes
Occult macular dystrophy|Retinitis pigmentosa 88
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.