Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs144874997

REEP1

rs144874997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to REEP1. Location: chromosome 2, position 86,459,814. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

REEP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:86459814
Cytoband
2p11.2
HGVS
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)
Allele change
Missense_R150W

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.