ClinVar

NM_000543.5(SMPD1):c.1021C>T (p.Arg341Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6392086 (on Assembly GRCh38)
• Chr11: 6413316 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1021C>T (p.Arg341Cys)

HGVS:

• NC_000011.10:g.6392086C>T
• NG_011780.1:g.6662C>T
• NM_000543.5:c.1021C>TMANE SELECT
• NM_001007593.3:c.1018C>T
• NM_001318087.2:c.1021C>T
• NM_001318088.2:c.60C>T
• NM_001365135.2:c.1021C>T
• NP_000534.3:p.Arg341Cys
• NP_001007594.2:p.Arg340Cys
• NP_001305016.1:p.Arg341Cys
• NP_001305017.1:p.Pro20=
• NP_001352064.1:p.Arg341Cys
• NC_000011.9:g.6413316C>T
• NM_000543.4:c.1021C>T
• NR_027400.3:n.1146C>T

This HGVS expression did not pass validation

Protein change:

R340C

Links:

dbSNP: rs369841281

NCBI 1000 Genomes Browser:

rs369841281

Molecular consequence:

• NM_000543.5:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1018C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.1146C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001318088.2:c.60C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2