ClinVar

NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394261 (on Assembly GRCh38)
• Chr11: 6415491 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)

HGVS:

• NC_000011.10:g.6394261A>T
• NG_011780.1:g.8837A>T
• NG_029615.1:g.30154T>A
• NM_000543.5:c.1550A>TMANE SELECT
• NM_001007593.3:c.1547A>T
• NM_001318087.2:c.*43A>T
• NM_001318088.2:c.629A>T
• NM_001365135.2:c.1418A>T
• NP_000534.3:p.Glu517Val
• NP_001007594.2:p.Glu516Val
• NP_001305017.1:p.Glu210Val
• NP_001352064.1:p.Glu473Val
• NC_000011.9:g.6415491A>T
• NM_000543.4:c.1550A>T
• NM_000543.5(SMPD1):c.1550A>TMANE SELECT
• NR_027400.3:n.1503A>T
• NR_134502.2:n.1042A>T
• p.Glu517Val

This HGVS expression did not pass validation

Protein change:

E210V

Links:

dbSNP: rs142787001

NCBI 1000 Genomes Browser:

rs142787001

Molecular consequence:

• NM_001318087.2:c.*43A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000543.5:c.1550A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1547A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318088.2:c.629A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.1418A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.1503A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.1042A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]