Variant (rsID / SNP)

rs148247227

rs148247227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBP3. Location: chromosome 10, position 48,388,710. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RBP3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:48388710
Cytoband: 10q11.22
HGVS: NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)
Allele change: Missense_P723L

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.