Variant (rsID / SNP)

rs151340621

rs151340621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN5. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLCN5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter)
Allele change: Nonsense_R718X

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.