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Variant (rsID / SNP)

rs79524027

RPGRIP1L

rs79524027 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1L. Location: chromosome 16, position 53,690,423. 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
16:53690423
Cytoband
16q12.2
HGVS
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)
Allele change
Missense_L554I

Associated conditions / phenotypes

Meckel syndrome, type 5|COACH syndrome 1|Joubert syndrome 7|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.