Variant (rsID / SNP)

rs143437511

rs143437511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN4. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CLCN4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_001830.4(CLCN4):c.1758G>A (p.Val586=)
Allele change: Synonymous_V492V

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.