Variant (rsID / SNP)

rs189145468

rs189145468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1. Location: chromosome 8, position 55,537,354. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RP1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:55537354
Cytoband: 8q12.1
HGVS: NM_006269.2(RP1):c.912G>T (p.Lys304Asn)
Allele change: Missense_K304N

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.