Variant (rsID / SNP)

rs121912451

rs121912451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOD1. Location: chromosome 21, position 33,040,830. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SOD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:33040830
Cytoband: 21q22.11
HGVS: NM_000454.5(SOD1):c.404G>A (p.Ser135Asn)
Allele change: Missense_S135N

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 1

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.