Variant (rsID / SNP)

rs76116949

rs76116949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11, EIF3J. Location: chromosome 15, position 44,855,395. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPG11Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:44855395
Cytoband: 15q21.1
HGVS: NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
Allele change: Missense_K2306R

Associated conditions / phenotypes

Hereditary spastic paraplegia 11|Amyotrophic lateral sclerosis|Hereditary spastic paraplegia

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.