Variant (rsID / SNP)
rs80356706
rs80356706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,048,886. Clinical significance in the table: Uncertain significance.
Reference-table entries
CLCN1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:143048886
- Cytoband
- 7q34
- HGVS
- NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu)
- Allele change
- Missense_P932L
Associated conditions / phenotypes
Congenital myotonia, autosomal recessive form|Batten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.