Variant (rsID / SNP)

rs111656822

rs111656822 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN2. Location: chromosome 3, position 184,070,901. Clinical significance in the table: Benign.

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Reference-table entries

CLCN2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:184070901
Cytoband: 3q27.1
HGVS: NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)
Allele change: Missense_R644Q

Associated conditions / phenotypes

Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Epilepsy, idiopathic generalized, susceptibility to, 11

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.