Variant (rsID / SNP)
rs71318369
rs71318369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN2. Location: chromosome 3, position 184,075,476. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:184075476
- Cytoband
- 3q27.1
- HGVS
- NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
- Allele change
- Missense_R191Q
Associated conditions / phenotypes
Epilepsy, juvenile myoclonic 8|Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Epilepsy, idiopathic generalized, susceptibility to, 11|Familial hyperaldosteronism type II|Epilepsy, idiopathic generalized, susceptibility to, 11|Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.