Variant (rsID / SNP)

rs78183930

rs78183930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,918,690. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPG11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:44918690
Cytoband: 15q21.1
HGVS: NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
Allele change: Missense_A695T

Associated conditions / phenotypes

Hereditary spastic paraplegia 11|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.