Variant (rsID / SNP)

rs145005596

rs145005596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHS. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NHSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)
Allele change: Missense_S1104L

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.