ClinVar

NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394272 (on Assembly GRCh38)
• Chr11: 6415502 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)

HGVS:

• NC_000011.10:g.6394272C>T
• NG_011780.1:g.8848C>T
• NG_029615.1:g.30143G>A
• NM_000543.5:c.1561C>TMANE SELECT
• NM_001007593.3:c.1558C>T
• NM_001318087.2:c.*54C>T
• NM_001318088.2:c.640C>T
• NM_001365135.2:c.1429C>T
• NP_000534.3:p.Leu521=
• NP_001007594.2:p.Leu520=
• NP_001305017.1:p.Leu214=
• NP_001352064.1:p.Leu477=
• NC_000011.9:g.6415502C>T
• NM_000543.4:c.1561C>T
• NR_027400.3:n.1514C>T
• NR_134502.2:n.1053C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147258619

NCBI 1000 Genomes Browser:

rs147258619

Molecular consequence:

• NM_001318087.2:c.*54C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_027400.3:n.1514C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.1053C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000543.5:c.1561C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001007593.3:c.1558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318088.2:c.640C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365135.2:c.1429C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1