Variant (rsID / SNP)

rs1799895

rs1799895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOD3. Location: chromosome 4, position 24,801,834. Clinical significance in the table: Pathogenic.

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Reference-table entries

SOD3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:24801834
Cytoband: 4p15.2
HGVS: NM_003102.4(SOD3):c.691C>G (p.Arg231Gly)
Allele change: Missense_R231G

Associated conditions / phenotypes

Superoxide dismutase, elevated extracellular

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.