Variant (rsID / SNP)

rs132630266

rs132630266 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHM. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.2
HGVS: NM_000390.4(CHM):c.877C>T (p.Arg293Ter)
Allele change: Nonsense_R293X

Associated conditions / phenotypes

Choroideremia

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.