Variant (rsID / SNP)

rs118031911

rs118031911 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1. Location: chromosome 8, position 55,542,239. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RP1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:55542239
Cytoband: 8q12.1
HGVS: NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)
Allele change: Nonsense_R1933X

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 1

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.