Variant (rsID / SNP)

rs145643238

rs145643238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,877,834. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPG11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:44877834
Cytoband: 15q21.1
HGVS: NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
Allele change: Missense_E1707D

Associated conditions / phenotypes

Hereditary spastic paraplegia 11|Intellectual disability

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.