Variant (rsID / SNP)
rs143863631
rs143863631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,686,789. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RPGRIP1LConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:53686789
- Cytoband
- 16q12.2
- HGVS
- NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)
- Allele change
- Missense_E604K
Associated conditions / phenotypes
Joubert syndrome 7|Meckel syndrome, type 5|Nephronophthisis 8|Meckel syndrome, type 5|COACH syndrome 1|Joubert syndrome 7|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.