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Variant (rsID / SNP)

rs3219160

ALS2

rs3219160 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALS2. Location: chromosome 2, position 202,606,507. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:202606507
Cytoband
2q33.1
HGVS
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
Allele change
Synonymous_Y747Y

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.