Variant (rsID / SNP)
rs120074128
rs120074128 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,413,175. Clinical significance in the table: Pathogenic.
Reference-table entries
SMPD1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:6413175
- Cytoband
- 11p15.4
- HGVS
- NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
- Allele change
- Missense_Q294K
Associated conditions / phenotypes
Niemann-Pick disease, type B|Niemann-pick disease, intermediate, protracted neurovisceral|Niemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B|Sphingomyelin/cholesterol lipidosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.