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Variant (rsID / SNP)

rs146160029

CLCN1

rs146160029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,013,391. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CLCN1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
7:143013391
Cytoband
7q34
HGVS
NM_000083.3(CLCN1):c.86A>C (p.His29Pro)
Allele change
Missense_H29P

Associated conditions / phenotypes

Batten-Turner congenital myopathy|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.