Variant (rsID / SNP)
rs2272251
rs2272251 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,042,837. Clinical significance in the table: Benign.
Reference-table entries
CLCN1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:143042837
- Cytoband
- 7q34
- HGVS
- NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)
- Allele change
- Synonymous_D718D
Associated conditions / phenotypes
Batten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|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.