ClinVar

NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394041 (on Assembly GRCh38)
• Chr11: 6415271 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser)

HGVS:

• NC_000011.10:g.6394041G>A
• NG_011780.1:g.8617G>A
• NG_029615.1:g.30374C>T
• NM_000543.5:c.1486G>AMANE SELECT
• NM_001007593.3:c.1483G>A
• NM_001318087.2:c.1486G>A
• NM_001318088.2:c.565G>A
• NM_001365135.2:c.1354G>A
• NP_000534.3:p.Gly496Ser
• NP_001007594.2:p.Gly495Ser
• NP_001305016.1:p.Val496Ile
• NP_001305017.1:p.Gly189Ser
• NP_001352064.1:p.Gly452Ser
• NC_000011.9:g.6415271G>A
• NM_000543.4:c.1486G>A
• NR_027400.3:n.1439G>A
• NR_134502.2:n.958G>A

This HGVS expression did not pass validation

Protein change:

G189S

Links:

dbSNP: rs1554935371

NCBI 1000 Genomes Browser:

rs1554935371

Molecular consequence:

• NM_000543.5:c.1486G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1483G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.1486G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318088.2:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.1439G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.958G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]