Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs120074122

SMPD1

rs120074122 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,413,025. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SMPD1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:6413025
Cytoband
11p15.4
HGVS
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
Allele change
Missense_G244R

Associated conditions / phenotypes

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