Variant (rsID / SNP)

rs3219172

rs3219172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALS2. Location: chromosome 2, position 202,566,411. Clinical significance in the table: Likely benign.

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Reference-table entries

ALS2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:202566411
Cytoband: 2q33.1
HGVS: NM_020919.4(ALS2):c.*163A>G
Allele change: Silent

Associated conditions / phenotypes

ALS2-Related Disorders|Amyotrophic lateral sclerosis type 2, juvenile

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.