Variant (rsID / SNP)
rs80265967
rs80265967 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOD1. Location: chromosome 21, position 33,039,603. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SOD1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:33039603
- Cytoband
- 21q22.11
- HGVS
- NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
- Allele change
- Missense_D91A
Associated conditions / phenotypes
Amyotrophic lateral sclerosis type 1|Amyotrophic lateral sclerosis 1, autosomal recessive|Amyotrophic Lateral Sclerosis, Dominant|Amyotrophic lateral sclerosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.