ClinVar

NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)

Genes:

APBB1:amyloid beta precursor protein binding family B member 1 [Gene - OMIM - HGNC]
SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394204 (on Assembly GRCh38)
• Chr11: 6415434 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)

Other names:

R496L

HGVS:

• NC_000011.10:g.6394204G>T
• NG_011780.1:g.8780G>T
• NG_029615.1:g.30211C>A
• NM_000543.4(SMPD1):c.1493G>T
• NM_000543.5:c.1493G>TMANE SELECT
• NM_001007593.3:c.1490G>T
• NM_001318087.2:c.1513G>T
• NM_001318088.2:c.572G>T
• NM_001365135.2:c.1361G>T
• NP_000534.3:p.Arg498Leu
• NP_000534.3:p.Arg498Leu
• NP_001007594.2:p.Arg497Leu
• NP_001305016.1:p.Val505Leu
• NP_001305017.1:p.Arg191Leu
• NP_001352064.1:p.Arg454Leu
• NC_000011.9:g.6415434G>T
• NM_000543.3:c.1493G>T
• NM_000543.4(SMPD1):c.1493G>T
• NM_000543.4:c.1493G>T
• NR_027400.3:n.1446G>T
• NR_134502.2:n.985G>T
• c.1493G>T (p.Arg498Leu)
• p.Arg496Leu

This HGVS expression did not pass validation

Protein change:

R191L; ARG496LEU

Links:

OMIM: 607608.0001; dbSNP: rs120074117

NCBI 1000 Genomes Browser:

rs120074117

Molecular consequence:

• NM_000543.5:c.1493G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1490G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.1513G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318088.2:c.572G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.1361G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.1446G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.985G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]