Variant (rsID / SNP)
rs200225522
rs200225522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1. Location: chromosome 14, position 21,762,981. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RPGRIP1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:21762981
- Cytoband
- 14q11.2
- HGVS
- NM_020366.4(RPGRIP1):c.218+13C>G
- Allele change
- Silent
Associated conditions / phenotypes
Cone-rod dystrophy 13|Leber congenital amaurosis 6|Cone-rod dystrophy 13|Leber congenital amaurosis 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.