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Variant (rsID / SNP)

rs189652973

REEP1

rs189652973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to REEP1. Location: chromosome 2, position 86,444,173. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

REEP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:86444173
Cytoband
2p11.2
HGVS
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)
Allele change
Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 31

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.