Variant (rsID / SNP)
rs121912442
rs121912442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOD1. Location: chromosome 21, position 33,032,096. Clinical significance in the table: Pathogenic.
Reference-table entries
SOD1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:33032096
- Cytoband
- 21q22.11
- HGVS
- NM_000454.5(SOD1):c.14C>T (p.Ala5Val)
- Allele change
- Missense_A5V
Associated conditions / phenotypes
Amyotrophic lateral sclerosis type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.