Variant (rsID / SNP)

rs121912443

rs121912443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOD1. Location: chromosome 21, position 33,036,170. Clinical significance in the table: Pathogenic.

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Reference-table entries

SOD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:33036170
Cytoband: 21q22.11
HGVS: NM_000454.5(SOD1):c.140A>G (p.His47Arg)
Allele change: Missense_H47R

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 1|Amyotrophic lateral sclerosis

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.