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Variant (rsID / SNP)

rs3219154

ALS2

rs3219154 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALS2. Location: chromosome 2, position 202,626,437. Clinical significance in the table: Benign.

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Reference-table entries

ALS2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
2:202626437
Cytoband
2q33.1
HGVS
NM_020919.4(ALS2):c.280A>G (p.Ile94Val)
Allele change
Missense_I94V

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 2, juvenile|ALS2-Related Disorders|Infantile-onset ascending hereditary spastic paralysis|Hereditary spastic paraplegia

Public references

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