Variant (rsID / SNP)

rs140913229

rs140913229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN5. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLCN5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001127898.4(CLCN5):c.*2860T>C
Allele change: Silent

Associated conditions / phenotypes

Dent disease

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.