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Variant (rsID / SNP)

rs118066140

CLCN1

rs118066140 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,027,910. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLCN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:143027910
Cytoband
7q34
HGVS
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
Allele change
Missense_R300Q

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.