ClinVar

NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6391966 (on Assembly GRCh38)
• Chr11: 6413196 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)

HGVS:

• NC_000011.10:g.6391966G>A
• NG_011780.1:g.6542G>A
• NM_000543.4(SMPD1):c.901G>A
• NM_000543.5:c.901G>AMANE SELECT
• NM_001007593.3:c.898G>A
• NM_001318087.2:c.901G>A
• NM_001318088.2:c.-61G>A
• NM_001365135.2:c.901G>A
• NP_000534.3:p.Val301Ile
• NP_001007594.2:p.Val300Ile
• NP_001305016.1:p.Val301Ile
• NP_001352064.1:p.Val301Ile
• NC_000011.9:g.6413196G>A
• NM_000543.4(SMPD1):c.901G>A
• NM_000543.4:c.901G>A
• NM_000543.5:c.901G>A
• NR_027400.3:n.1026G>A
• p.Val301Ile

This HGVS expression did not pass validation

Protein change:

V300I

Links:

dbSNP: rs2723669

NCBI 1000 Genomes Browser:

rs2723669

Molecular consequence:

• NM_001318088.2:c.-61G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000543.5:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.1026G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1