ClinVar

NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394203 (on Assembly GRCh38)
• Chr11: 6415433 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)

HGVS:

• NC_000011.10:g.6394203C>T
• NG_011780.1:g.8779C>T
• NG_029615.1:g.30212G>A
• NM_000543.4(SMPD1):c.1492C>T
• NM_000543.5:c.1492C>TMANE SELECT
• NM_001007593.3:c.1489C>T
• NM_001318087.2:c.1512C>T
• NM_001318088.2:c.571C>T
• NM_001365135.2:c.1360C>T
• NP_000534.3:p.Arg498Cys
• NP_001007594.2:p.Arg497Cys
• NP_001305016.1:p.Thr504=
• NP_001305017.1:p.Arg191Cys
• NP_001352064.1:p.Arg454Cys
• NC_000011.9:g.6415433C>T
• NM_000543.4(SMPD1):c.1492C>T
• NM_000543.4:c.1492C>T
• NM_000543.5:c.1492C>T
• NR_027400.3:n.1445C>T
• NR_134502.2:n.984C>T
• p.Arg498Cys

This HGVS expression did not pass validation

Protein change:

R191C

Links:

dbSNP: rs769904764

NCBI 1000 Genomes Browser:

rs769904764

Molecular consequence:

• NM_000543.5:c.1492C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1489C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318088.2:c.571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.1445C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.984C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001318087.2:c.1512C>T - synonymous variant - [Sequence Ontology: SO:0001819]