ClinVar

NM_000543.5(SMPD1):c.925C>T (p.Leu309=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6391990 (on Assembly GRCh38)
• Chr11: 6413220 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.925C>T (p.Leu309=)

HGVS:

• NC_000011.10:g.6391990C>T
• NG_011780.1:g.6566C>T
• NM_000543.4:c.925C>T
• NM_000543.5:c.925C>TMANE SELECT
• NM_001007593.3:c.922C>T
• NM_001318087.2:c.925C>T
• NM_001318088.2:c.-37C>T
• NM_001365135.2:c.925C>T
• NP_000534.3:p.Leu309=
• NP_001007594.2:p.Leu308=
• NP_001305016.1:p.Leu309=
• NP_001352064.1:p.Leu309=
• NC_000011.9:g.6413220C>T
• NR_027400.3:n.1050C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001318088.2:c.-37C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_027400.3:n.1050C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000543.5:c.925C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001007593.3:c.922C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318087.2:c.925C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365135.2:c.925C>T - synonymous variant - [Sequence Ontology: SO:0001819]