Variant (rsID / SNP)

rs273585646

rs273585646 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN5. The table records no clinical significance for this variant.

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Reference-table entries

CLCN5Not classified

Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys)
Allele change: Missense_N410K

Associated conditions / phenotypes

Dent disease type 1

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.