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Variant (rsID / SNP)

rs182812968

SMPD1

rs182812968 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,415,211. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SMPD1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:6415211
Cytoband
11p15.4
HGVS
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
Allele change
Missense_R476W

Associated conditions / phenotypes

Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis|Niemann-Pick disease, type A|Niemann-Pick disease, type B

Public references

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