ClinVar

NM_000543.5(SMPD1):c.1487-19C>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394179 (on Assembly GRCh38)
• Chr11: 6415409 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1487-19C>A

HGVS:

• NC_000011.10:g.6394179C>A
• NG_011780.1:g.8755C>A
• NG_029615.1:g.30236G>T
• NM_000543.5:c.1487-19C>AMANE SELECT
• NM_001007593.3:c.1484-19C>A
• NM_001318087.2:c.1488C>A
• NM_001318088.2:c.566-19C>A
• NM_001365135.2:c.1355-19C>A
• NP_001305016.1:p.Val496=
• NC_000011.9:g.6415409C>A
• NR_134502.2:n.960C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000543.5:c.1487-19C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001007593.3:c.1484-19C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318088.2:c.566-19C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365135.2:c.1355-19C>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_134502.2:n.960C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001318087.2:c.1488C>A - synonymous variant - [Sequence Ontology: SO:0001819]