ClinVar

NM_000543.5(SMPD1):c.318+5G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6390921 (on Assembly GRCh38)
• Chr11: 6412151 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.318+5G>A

HGVS:

• NC_000011.10:g.6390921G>A
• NG_011780.1:g.5497G>A
• NM_000543.5:c.318+5G>AMANE SELECT
• NM_001007593.3:c.318+5G>A
• NM_001318087.2:c.318+5G>A
• NM_001318088.2:c.-644+5G>A
• NM_001365135.2:c.318+5G>A
• NC_000011.9:g.6412151G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs375723261

NCBI 1000 Genomes Browser:

rs375723261

Molecular consequence:

• NM_000543.5:c.318+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001007593.3:c.318+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318087.2:c.318+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318088.2:c.-644+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365135.2:c.318+5G>A - intron variant - [Sequence Ontology: SO:0001627]