Variant (rsID / SNP)

rs1040904

rs1040904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1. Location: chromosome 14, position 21,769,193. Clinical significance in the table: Benign.

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Reference-table entries

RPGRIP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:21769193
Cytoband: 14q11.2
HGVS: NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln)
Allele change: Missense_P96Q

Associated conditions / phenotypes

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

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.