Variant (rsID / SNP)

rs28937883

rs28937883 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGRIP1. Location: chromosome 14, position 21,794,102. Clinical significance in the table: Pathogenic.

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Reference-table entries

RPGRIP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:21794102
Cytoband: 14q11.2
HGVS: NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu)
Allele change: Missense_R827L

Associated conditions / phenotypes

Cone-rod dystrophy 13

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.