Y4H (p.Tyr4His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y4H (p.Tyr4His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sphingomyelin/cholesterol lipidosis. The record also includes population frequency data, published literature, and structural context.
Y4H (p.Tyr4His) variant details
- p.Tyr4His
- rs1400503556
- ClinGen CA379366399
- ClinVar RCV001279277
- TOPMed rs1400503556
- Uncertain significance
- Sphingomyelin/cholesterol lipidosis
- Missense
- ClinVar: Uncertain significance (Sphingomyelin/cholesterol lipidosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Acid Sphingomyelinase Deficiency. (PMID 20301544)