Variant (rsID / SNP)

rs143761967

rs143761967 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RGR. Location: chromosome 10, position 86,008,759. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RGRConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:86008759
Cytoband: 10q23.1
HGVS: NM_001012720.2(RGR):c.318T>C (p.Ser106=)
Allele change: Synonymous_S106S

Associated conditions / phenotypes

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.