ClinVar

NM_000543.5(SMPD1):c.1182C>A (p.Leu394=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6393306 (on Assembly GRCh38)
• Chr11: 6414536 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1182C>A (p.Leu394=)

HGVS:

• NC_000011.10:g.6393306C>A
• NG_011780.1:g.7882C>A
• NG_029615.1:g.31109G>T
• NM_000543.5:c.1182C>AMANE SELECT
• NM_001007593.3:c.1179C>A
• NM_001318087.2:c.1182C>A
• NM_001318088.2:c.261C>A
• NM_001365135.2:c.1132-311C>A
• NP_000534.3:p.Leu394=
• NP_001007594.2:p.Leu393=
• NP_001305016.1:p.Leu394=
• NP_001305017.1:p.Leu87=
• NC_000011.9:g.6414536C>A
• NR_134502.2:n.654C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2134017489

NCBI 1000 Genomes Browser:

rs2134017489

Molecular consequence:

• NM_001365135.2:c.1132-311C>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_134502.2:n.654C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000543.5:c.1182C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001007593.3:c.1179C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318087.2:c.1182C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318088.2:c.261C>A - synonymous variant - [Sequence Ontology: SO:0001819]