Variant (rsID / SNP)
rs189963844
rs189963844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,018,897. 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
- 7:143018897
- Cytoband
- 7q34
- HGVS
- NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr)
- Allele change
- Missense_A218T
Associated conditions / phenotypes
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.