Variant (rsID / SNP)

rs121912455

rs121912455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOD1. Location: chromosome 21, position 33,038,809. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SOD1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:33038809
Cytoband: 21q22.11
HGVS: NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)
Allele change: Missense_G73S

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.