Variant (rsID / SNP)
rs121918204
rs121918204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,686,549. Clinical significance in the table: Pathogenic.
Reference-table entries
RPGRIP1LPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:53686549
- Cytoband
- 16q12.2
- HGVS
- NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
- Allele change
- Nonsense_Q684X
Associated conditions / phenotypes
Joubert syndrome 7|Joubert syndrome 7|COACH syndrome 1|Meckel syndrome, type 5|Meckel-Gruber syndrome|Joubert syndrome|Joubert syndrome|Abnormality of prenatal development or birth
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.