ClinVar

NM_000543.5(SMPD1):c.1194C>T (p.Ser398=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6393318 (on Assembly GRCh38)
• Chr11: 6414548 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1194C>T (p.Ser398=)

HGVS:

• NC_000011.10:g.6393318C>T
• NG_011780.1:g.7894C>T
• NG_029615.1:g.31097G>A
• NM_000543.5:c.1194C>TMANE SELECT
• NM_001007593.3:c.1191C>T
• NM_001318087.2:c.1194C>T
• NM_001318088.2:c.273C>T
• NM_001365135.2:c.1132-299C>T
• NP_000534.3:p.Ser398=
• NP_001007594.2:p.Ser397=
• NP_001305016.1:p.Ser398=
• NP_001305017.1:p.Ser91=
• NC_000011.9:g.6414548C>T
• NM_000543.4:c.1194C>T
• NR_134502.2:n.666C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs967970847

NCBI 1000 Genomes Browser:

rs967970847

Molecular consequence:

• NM_001365135.2:c.1132-299C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_134502.2:n.666C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000543.5:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001007593.3:c.1191C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318087.2:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318088.2:c.273C>T - synonymous variant - [Sequence Ontology: SO:0001819]