Variant (rsID / SNP)
rs121912799
rs121912799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,029,583. Clinical significance in the table: Pathogenic.
Reference-table entries
CLCN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:143029583
- Cytoband
- 7q34
- HGVS
- NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
- Allele change
- Missense_F413C
Associated conditions / phenotypes
Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Toe walking|CLCN1-related disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.