Variant (rsID / SNP)

rs138531908

rs138531908 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,415,736. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SMPD1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:6415736
Cytoband: 11p15.4
HGVS: NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe)
Allele change: Missense_L599I

Associated conditions / phenotypes

Niemann-Pick disease, type A

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.