Variant (rsID / SNP)

rs377712421

rs377712421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to REEP1. Location: chromosome 2, position 86,479,101. Clinical significance in the table: Likely benign.

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Reference-table entries

REEP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:86479101
Cytoband: 2p11.2
HGVS: NM_001371279.1(REEP1):c.396G>A (p.Ala132=)
Allele change: Synonymous_A105A

Associated conditions / phenotypes

Hereditary spastic paraplegia 31

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.