Variant (rsID / SNP)

rs797044813

rs797044813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN5. Clinical significance in the table: Pathogenic.

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Reference-table entries

CLCN5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)
Allele change: Nonsense_R707X

Associated conditions / phenotypes

Dent disease type 1|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

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.