Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs377637314

REEP1

rs377637314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to REEP1. Location: chromosome 2, position 86,444,180. 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
2:86444180
Cytoband
2p11.2
HGVS
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
Allele change
Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 31|Neuronopathy, distal hereditary motor, type 5B|Hereditary spastic paraplegia

Public references

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