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Variant (rsID / SNP)

rs200401966

RPGRIP1

rs200401966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1. Location: chromosome 14, position 21,793,089. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RPGRIP1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
14:21793089
Cytoband
14q11.2
HGVS
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg)
Allele change
Missense_H692R

Associated conditions / phenotypes

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