Variant (rsID / SNP)
rs1050239
rs1050239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,415,463. Clinical significance in the table: Benign.
Reference-table entries
SMPD1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:6415463
- Cytoband
- 11p15.4
- HGVS
- NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)
- Allele change
- Missense_G508R
Associated conditions / phenotypes
Niemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B|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.