ClinVar

NM_000543.5(SMPD1):c.1486+26C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394067 (on Assembly GRCh38)
• Chr11: 6415297 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1486+26C>T

HGVS:

• NC_000011.10:g.6394067C>T
• NG_011780.1:g.8643C>T
• NG_029615.1:g.30348G>A
• NM_000543.5:c.1486+26C>TMANE SELECT
• NM_001007593.3:c.1483+26C>T
• NM_001318087.2:c.1486+26C>T
• NM_001318088.2:c.565+26C>T
• NM_001365135.2:c.1354+26C>T
• NC_000011.9:g.6415297C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs74053351

NCBI 1000 Genomes Browser:

rs74053351

Molecular consequence:

• NM_000543.5:c.1486+26C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001007593.3:c.1483+26C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318087.2:c.1486+26C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318088.2:c.565+26C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365135.2:c.1354+26C>T - intron variant - [Sequence Ontology: SO:0001627]