ClinVar

NM_000543.5(SMPD1):c.689G>A (p.Arg230His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6391754 (on Assembly GRCh38)
• Chr11: 6412984 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.689G>A (p.Arg230His)

HGVS:

• NC_000011.10:g.6391754G>A
• NG_011780.1:g.6330G>A
• NM_000543.4(SMPD1):c.689G>A
• NM_000543.5:c.689G>AMANE SELECT
• NM_001007593.3:c.686G>A
• NM_001318087.2:c.689G>A
• NM_001318088.2:c.-273G>A
• NM_001365135.2:c.689G>A
• NP_000534.3:p.Arg230His
• NP_001007594.2:p.Arg229His
• NP_001305016.1:p.Arg230His
• NP_001352064.1:p.Arg230His
• NC_000011.9:g.6412984G>A
• NM_000543.4(SMPD1):c.689G>A
• NM_000543.4:c.689G>A
• NR_027400.3:n.814G>A
• p.Arg230His

This HGVS expression did not pass validation

Protein change:

R229H

Links:

dbSNP: rs141387770

NCBI 1000 Genomes Browser:

rs141387770

Molecular consequence:

• NM_001318088.2:c.-273G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000543.5:c.689G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.686G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.689G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.689G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.814G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

6