Variant (rsID / SNP)

rs2294384

rs2294384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLC1. Location: chromosome 22, position 50,498,869. Clinical significance in the table: Benign.

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Reference-table entries

MLC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:50498869
Cytoband: 22q13.33
HGVS: NM_015166.4(MLC1):c.*1143C>T
Allele change: Silent

Associated conditions / phenotypes

Megalencephalic leukoencephalopathy with subcortical cysts 1

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.