Variant (rsID / SNP)
rs55960271
rs55960271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,048,771. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CLCN1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:143048771
- Cytoband
- 7q34
- HGVS
- NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
- Allele change
- Nonsense_R894X
Associated conditions / phenotypes
Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Batten-Turner congenital myopathy|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form|EMG: myopathic abnormalities|Myopathy|Toe walking|Cerebral palsy|Abnormality of the musculature
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.