Variant (rsID / SNP)

rs121918262

rs121918262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to REEP1. Location: chromosome 2, position 86,509,339. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

REEP1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:86509339
Cytoband: 2p11.2
HGVS: NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 31|Spastic paraplegia|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.