Variant (rsID / SNP)

rs747342458

rs747342458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,415,675. The table records no clinical significance for this variant.

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Reference-table entries

SMPD1Not classified

Variant type: single nucleotide variant
Chromosome / position: 11:6415675
Cytoband: 11p15.4
HGVS: NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)
Allele change: Synonymous_K578K

Associated conditions / phenotypes

Sphingomyelin/cholesterol lipidosis

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.