Variant (rsID / SNP)

rs1057516403

rs1057516403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMPD1. Location: chromosome 11, position 6,415,725. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SMPD1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 11:6415725
Cytoband: 11p15.4
HGVS: NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)

Associated conditions / phenotypes

Niemann-Pick disease, type A|Niemann-Pick disease, type A|Niemann-Pick disease, type B

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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