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Variant (rsID / SNP)

rs76440173

SLC33A1

rs76440173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC33A1. Location: chromosome 3, position 155,546,124. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC33A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:155546124
Cytoband
3q25.31
HGVS
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
Allele change
Missense_G509S

Associated conditions / phenotypes

Spastic paraplegia|Hereditary spastic paraplegia 42|Hereditary spastic paraplegia

Public references

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