Variant (rsID / SNP)
rs142787001
rs142787001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,415,491. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SMPD1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:6415491
- Cytoband
- 11p15.4
- HGVS
- NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
- Allele change
- Missense_E517V
Associated conditions / phenotypes
Niemann-Pick disease, type A|Niemann-Pick disease, type B|Niemann-Pick disease, type A|Sphingomyelin/cholesterol lipidosis|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.