Variant (rsID / SNP)

rs879255583

rs879255583 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.1664C>T (p.Ala555Val)
Allele change: Missense_A461V

Associated conditions / phenotypes

CLCN4-related disorder|Inborn genetic diseases

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.