Variant (rsID / SNP)

rs141818342

rs141818342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC33A1. Location: chromosome 3, position 155,571,417. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC33A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:155571417
Cytoband: 3q25.31
HGVS: NM_004733.4(SLC33A1):c.370C>T (p.Leu124Phe)
Allele change: Missense_L124F

Associated conditions / phenotypes

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.