Variant (rsID / SNP)

rs145758265

rs145758265 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HUWE1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HUWE1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
Allele change: Missense_T1028A

Associated conditions / phenotypes

History of neurodevelopmental disorder

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.