ClinVar

NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6393377 (on Assembly GRCh38)
• Chr11: 6414607 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)

HGVS:

• NC_000011.10:g.6393377G>A
• NG_011780.1:g.7953G>A
• NG_029615.1:g.31038C>T
• NM_000543.5:c.1253G>AMANE SELECT
• NM_001007593.3:c.1250G>A
• NM_001318087.2:c.1253G>A
• NM_001318088.2:c.332G>A
• NM_001365135.2:c.1132-240G>A
• NP_000534.3:p.Arg418Gln
• NP_001007594.2:p.Arg417Gln
• NP_001305016.1:p.Arg418Gln
• NP_001305017.1:p.Arg111Gln
• NC_000011.9:g.6414607G>A
• NM_000543.4:c.1253G>A
• NR_134502.2:n.725G>A

This HGVS expression did not pass validation

Protein change:

R111Q

Links:

dbSNP: rs767722360

NCBI 1000 Genomes Browser:

rs767722360

Molecular consequence:

• NM_001365135.2:c.1132-240G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000543.5:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.1250G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318088.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134502.2:n.725G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]