Variant (rsID / SNP)

rs2228292

rs2228292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN2. Location: chromosome 3, position 184,070,588. 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: 3:184070588
Cytoband: 3q27.1
HGVS: NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp)
Allele change: Missense_E674D

Associated conditions / phenotypes

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

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.