Variant (rsID / SNP)

rs140536210

rs140536210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,028,702. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLCN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:143028702
Cytoband: 7q34
HGVS: NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser)
Allele change: Missense_G375S

Associated conditions / phenotypes

Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Batten-Turner congenital myopathy

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.