ClinVar

NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6390697 (on Assembly GRCh38)
• Chr11: 6411927 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)

HGVS:

• NC_000011.10:g.6390697G>A
• NG_011780.1:g.5273G>A
• NM_000543.5:c.99G>AMANE SELECT
• NM_001007593.3:c.99G>A
• NM_001318087.2:c.99G>A
• NM_001318088.2:c.-863G>A
• NM_001365135.2:c.99G>A
• NP_000534.3:p.Met33Ile
• NP_001007594.2:p.Met33Ile
• NP_001305016.1:p.Met33Ile
• NP_001352064.1:p.Met33Ile
• NC_000011.9:g.6411927G>A
• NM_000543.4:c.99G>A
• NR_027400.3:n.224G>A
• NR_134502.2:n.224G>A

This HGVS expression did not pass validation

Protein change:

M33I

Links:

dbSNP: rs142178073

NCBI 1000 Genomes Browser:

rs142178073

Molecular consequence:

• NM_001318088.2:c.-863G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000543.5:c.99G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.99G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.99G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.99G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.224G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.224G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]