Variant (rsID / SNP)
rs2111119
rs2111119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,671,754. Clinical significance in the table: Benign.
Reference-table entries
RPGRIP1LBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:53671754
- Cytoband
- 16q12.2
- HGVS
- NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
- Allele change
- Missense_G991S
Associated conditions / phenotypes
Meckel syndrome, type 5|Joubert syndrome 7|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.