ClinVar

NM_000543.5(SMPD1):c.1092-1G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6393215 (on Assembly GRCh38)
• Chr11: 6414445 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1092-1G>C

HGVS:

• NC_000011.10:g.6393215G>C
• NG_011780.1:g.7791G>C
• NG_029615.1:g.31200C>G
• NM_000543.5:c.1092-1G>CMANE SELECT
• NM_001007593.3:c.1089-1G>C
• NM_001318087.2:c.1092-1G>C
• NM_001318088.2:c.171-1G>C
• NM_001365135.2:c.1132-402G>C
• NC_000011.9:g.6414445G>C
• NM_000543.4:c.1092-1G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs398123474

NCBI 1000 Genomes Browser:

rs398123474

Molecular consequence:

• NM_001365135.2:c.1132-402G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000543.5:c.1092-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001007593.3:c.1089-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001318087.2:c.1092-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001318088.2:c.171-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]