Variant (rsID / SNP)

rs3804769

rs3804769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC33A1. Location: chromosome 3, position 155,571,275. Clinical significance in the table: Benign.

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Reference-table entries

SLC33A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:155571275
Cytoband: 3q25.31
HGVS: NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly)
Allele change: Missense_D171G

Associated conditions / phenotypes

Spastic paraplegia|Congenital cataract-hearing loss-severe developmental delay syndrome|Hereditary spastic paraplegia 42

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.