Variant (rsID / SNP)

rs568801926

rs568801926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,656,251. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RPGRIP1LConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:53656251
Cytoband: 16q12.2
HGVS: NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
Allele change: Silent

Associated conditions / phenotypes

Nephronophthisis 8|Meckel syndrome, type 5|Joubert syndrome 7|Meckel-Gruber syndrome|Joubert syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.