Variant (rsID / SNP)
rs80356703
rs80356703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,028,358. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CLCN1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:143028358
- Cytoband
- 7q34
- HGVS
- NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
- Allele change
- Missense_R338Q
Associated conditions / phenotypes
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.