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Variant (rsID / SNP)

rs120074124

SMPD1

rs120074124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,413,206. Clinical significance in the table: Pathogenic.

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Reference-table entries

SMPD1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:6413206
Cytoband
11p15.4
HGVS
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
Allele change
Missense_L304P

Associated conditions / phenotypes

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

Public references

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