Variant (rsID / SNP)

rs80358245

rs80358245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLC1. Location: chromosome 22, position 50,518,816. 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: 22:50518816
Cytoband: 22q13.33
HGVS: NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)
Allele change: Missense_S93L

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.