ClinVar

NM_000543.5(SMPD1):c.1567C>T (p.Leu523=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394278 (on Assembly GRCh38)
• Chr11: 6415508 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1567C>T (p.Leu523=)

HGVS:

• NC_000011.10:g.6394278C>T
• NG_011780.1:g.8854C>T
• NG_029615.1:g.30137G>A
• NM_000543.5:c.1567C>TMANE SELECT
• NM_001007593.3:c.1564C>T
• NM_001318087.2:c.*60C>T
• NM_001318088.2:c.646C>T
• NM_001365135.2:c.1435C>T
• NP_000534.3:p.Leu523=
• NP_001007594.2:p.Leu522=
• NP_001305017.1:p.Leu216=
• NP_001352064.1:p.Leu479=
• NC_000011.9:g.6415508C>T
• NR_027400.3:n.1520C>T
• NR_134502.2:n.1059C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001318087.2:c.*60C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_027400.3:n.1520C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.1059C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000543.5:c.1567C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001007593.3:c.1564C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318088.2:c.646C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365135.2:c.1435C>T - synonymous variant - [Sequence Ontology: SO:0001819]