Variant (rsID / SNP)

rs111245635

rs111245635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBP3. Location: chromosome 10, position 48,389,841. Clinical significance in the table: Benign.

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Reference-table entries

RBP3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:48389841
Cytoband: 10q11.22
HGVS: NM_002900.3(RBP3):c.1037G>A (p.Arg346His)
Allele change: Missense_R346H

Associated conditions / phenotypes

Retinitis pigmentosa 66|Retinitis pigmentosa

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.