ClinVar

NM_000543.5(SMPD1):c.1101G>C (p.Gly367=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6393225 (on Assembly GRCh38)
• Chr11: 6414455 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1101G>C (p.Gly367=)

HGVS:

• NC_000011.10:g.6393225G>C
• NG_011780.1:g.7801G>C
• NG_029615.1:g.31190C>G
• NM_000543.5:c.1101G>CMANE SELECT
• NM_001007593.3:c.1098G>C
• NM_001318087.2:c.1101G>C
• NM_001318088.2:c.180G>C
• NM_001365135.2:c.1132-392G>C
• NP_000534.3:p.Gly367=
• NP_001007594.2:p.Gly366=
• NP_001305016.1:p.Gly367=
• NP_001305017.1:p.Gly60=
• NC_000011.9:g.6414455G>C
• NM_000543.4:c.1101G>C
• NR_134502.2:n.573G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1302267359

NCBI 1000 Genomes Browser:

rs1302267359

Molecular consequence:

• NM_001365135.2:c.1132-392G>C - intron variant - [Sequence Ontology: SO:0001627]
• NR_134502.2:n.573G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000543.5:c.1101G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001007593.3:c.1098G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318087.2:c.1101G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318088.2:c.180G>C - synonymous variant - [Sequence Ontology: SO:0001819]