Variant (rsID / SNP)

rs886041876

rs886041876 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HUWE1. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HUWE1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
Allele change: Missense_R3070C

Associated conditions / phenotypes

Intellectual disability, X-linked syndromic, Turner type|Intellectual disability|Neurodevelopmental delay

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.