ClinVar

NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)

Gene:

SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6393241 (on Assembly GRCh38)
• Chr11: 6414471 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)

HGVS:

• NC_000011.10:g.6393241C>T
• NG_011780.1:g.7817C>T
• NG_029615.1:g.31174G>A
• NM_000543.5:c.1117C>TMANE SELECT
• NM_001007593.3:c.1114C>T
• NM_001318087.2:c.1117C>T
• NM_001318088.2:c.196C>T
• NM_001365135.2:c.1132-376C>T
• NP_000534.3:p.Pro373Ser
• NP_001007594.2:p.Pro372Ser
• NP_001305016.1:p.Pro373Ser
• NP_001305017.1:p.Pro66Ser
• NC_000011.9:g.6414471C>T
• NR_134502.2:n.589C>T

This HGVS expression did not pass validation

Protein change:

P372S

Links:

dbSNP: rs1342372980

NCBI 1000 Genomes Browser:

rs1342372980

Molecular consequence:

• NM_001365135.2:c.1132-376C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000543.5:c.1117C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1114C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.1117C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318088.2:c.196C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_134502.2:n.589C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]