ClinVar

NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6390750 (on Assembly GRCh38)
• Chr11: 6411980 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)

HGVS:

• NC_000011.10:g.6390750A>T
• NG_011780.1:g.5326A>T
• NM_000543.5:c.152A>TMANE SELECT
• NM_001007593.3:c.152A>T
• NM_001318087.2:c.152A>T
• NM_001318088.2:c.-810A>T
• NM_001365135.2:c.152A>T
• NP_000534.3:p.Asp51Val
• NP_001007594.2:p.Asp51Val
• NP_001305016.1:p.Asp51Val
• NP_001352064.1:p.Asp51Val
• NC_000011.9:g.6411980A>T
• NM_000543.4:c.152A>T
• NR_027400.3:n.277A>T
• NR_134502.2:n.277A>T

This HGVS expression did not pass validation

Protein change:

D51V

Links:

dbSNP: rs748589919

NCBI 1000 Genomes Browser:

rs748589919

Molecular consequence:

• NM_001318088.2:c.-810A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000543.5:c.152A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.152A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.152A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.152A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.277A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.277A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]