Variant (rsID / SNP)

rs118203963

rs118203963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,865,850. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPG11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:44865850
Cytoband: 15q21.1
HGVS: NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 11|Charcot-Marie-Tooth disease axonal type 2X|Charcot-Marie-Tooth disease axonal type 2X|Hereditary spastic paraplegia 11

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.