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Variant (rsID / SNP)

rs141387770

SMPD1

rs141387770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,412,984. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMPD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:6412984
Cytoband
11p15.4
HGVS
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
Allele change
Missense_R230H

Associated conditions / phenotypes

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

Public references

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