Variant (rsID / SNP)

rs121918526

rs121918526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HUWE1. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HUWE1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)
Allele change: Missense_R2981H

Associated conditions / phenotypes

Intellectual disability, X-linked syndromic, Turner type

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.