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Variant (rsID / SNP)

rs80358242

MLC1

rs80358242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLC1. Location: chromosome 22, position 50,523,156. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MLC1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:50523156
Cytoband
22q13.33
HGVS
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)
Allele change
Missense_G59E

Associated conditions / phenotypes

Megalencephalic leukoencephalopathy with subcortical cysts 1|Megalencephalic leukoencephalopathy with subcortical cysts

Public references

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