Variant (rsID / SNP)

rs121908138

rs121908138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALS2. Location: chromosome 2, position 202,626,247. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ALS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:202626247
Cytoband: 2q33.1
HGVS: NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)
Allele change: Missense_C157Y

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.