Variant (rsID / SNP)

rs386134184

rs386134184 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALS2. Location: chromosome 2, position 202,591,591. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:202591591
Cytoband: 2q33.1
HGVS: NM_020919.4(ALS2):c.2980-2A>G
Allele change: Silent

Associated conditions / phenotypes

Juvenile primary lateral sclerosis

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.