Variant (rsID / SNP)
rs202119213
rs202119213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN1. Location: chromosome 7, position 143,029,550. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CLCN1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:143029550
- Cytoband
- 7q34
- HGVS
- NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)
- Allele change
- Missense_A402V
Associated conditions / phenotypes
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.