ClinVar

NM_000543.5(SMPD1):c.1280A>T (p.His427Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6393633 (on Assembly GRCh38)
• Chr11: 6414863 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1280A>T (p.His427Leu)

HGVS:

• NC_000011.10:g.6393633A>T
• NG_011780.1:g.8209A>T
• NG_029615.1:g.30782T>A
• NM_000543.5:c.1280A>TMANE SELECT
• NM_001007593.3:c.1277A>T
• NM_001318087.2:c.1280A>T
• NM_001318088.2:c.359A>T
• NM_001365135.2:c.1148A>T
• NP_000534.3:p.His427Leu
• NP_001007594.2:p.His426Leu
• NP_001305016.1:p.His427Leu
• NP_001305017.1:p.His120Leu
• NP_001352064.1:p.His383Leu
• NC_000011.9:g.6414863A>T
• NR_027400.3:n.1233A>T
• NR_134502.2:n.752A>T

This HGVS expression did not pass validation

Protein change:

H120L

Links:

dbSNP: rs794727629

NCBI 1000 Genomes Browser:

rs794727629

Molecular consequence:

• NM_000543.5:c.1280A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1277A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.1280A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318088.2:c.359A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.1148A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.1233A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.752A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1