Variant (rsID / SNP)
rs2302677
rs2302677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,682,949. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
RPGRIP1LBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:53682949
- Cytoband
- 16q12.2
- HGVS
- NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
- Allele change
- Missense_R744Q
Associated conditions / phenotypes
Joubert syndrome 7|Meckel syndrome, type 5|Nephronophthisis 8|Joubert syndrome|Meckel-Gruber syndrome|Joubert syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.