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Variant (rsID / SNP)

rs186266220

RPGRIP1

rs186266220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1. Location: chromosome 14, position 21,770,698. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RPGRIP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:21770698
Cytoband
14q11.2
HGVS
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)
Allele change
Missense_A181G

Associated conditions / phenotypes

Cone-rod dystrophy 13|Leber congenital amaurosis 6|Leber congenital amaurosis 6|Cone-rod dystrophy 13

Public references

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