Variant (rsID / SNP)

rs132630322

rs132630322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHS. Clinical significance in the table: Pathogenic.

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Reference-table entries

NHSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)
Allele change: Nonsense_R373X

Associated conditions / phenotypes

Nance-Horan syndrome

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.