Variant (rsID / SNP)

rs386134175

rs386134175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALS2. Location: chromosome 2, position 202,625,709. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:202625709
Cytoband: 2q33.1
HGVS: NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs)

Associated conditions / phenotypes

Infantile-onset ascending hereditary spastic paralysis

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.