Variant (rsID / SNP)

rs104894911

rs104894911 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NYX. Clinical significance in the table: Pathogenic.

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Reference-table entries

NYXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)
Allele change: Missense_I101T

Associated conditions / phenotypes

Congenital stationary night blindness 1A

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.