ClinVar

NM_000543.5(SMPD1):c.1710G>A (p.Gln570=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6394421 (on Assembly GRCh38)
• Chr11: 6415651 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.1710G>A (p.Gln570=)

HGVS:

• NC_000011.10:g.6394421G>A
• NG_011780.1:g.8997G>A
• NG_029615.1:g.29994C>T
• NM_000543.5:c.1710G>AMANE SELECT
• NM_001007593.3:c.1707G>A
• NM_001318087.2:c.*203G>A
• NM_001318088.2:c.789G>A
• NM_001365135.2:c.1578G>A
• NP_000534.3:p.Gln570=
• NP_001007594.2:p.Gln569=
• NP_001305017.1:p.Gln263=
• NP_001352064.1:p.Gln526=
• NC_000011.9:g.6415651G>A
• NR_027400.3:n.1663G>A
• NR_134502.2:n.1202G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs767055403

NCBI 1000 Genomes Browser:

rs767055403

Molecular consequence:

• NM_001318087.2:c.*203G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_027400.3:n.1663G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.1202G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000543.5:c.1710G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001007593.3:c.1707G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318088.2:c.789G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365135.2:c.1578G>A - synonymous variant - [Sequence Ontology: SO:0001819]