Variant (rsID / SNP)

rs151340624

rs151340624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN5. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLCN5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)
Allele change: Nonsense_R774X

Associated conditions / phenotypes

Nephrolithiasis, X-linked recessive|X-linked recessive nephrolithiasis with renal failure

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.