Variant (rsID / SNP)

rs273585649

rs273585649 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLCN5Not classified

Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg)
Allele change: Missense_K616R

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.