Variant (rsID / SNP)

rs879255591

rs879255591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN4. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLCN4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn)
Allele change: Silent

Associated conditions / phenotypes

CLCN4-related 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.