ClinVar

NM_000237.3(LPL):c.998G>A (p.Arg333His)

Gene:

LPL:lipoprotein lipase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

• Chr8: 19956063 (on Assembly GRCh38)
• Chr8: 19813574 (on Assembly GRCh37)

Preferred name:

NM_000237.3(LPL):c.998G>A (p.Arg333His)

Other names:

p.Arg333His

HGVS:

• NC_000008.11:g.19956063G>A
• NG_008855.2:g.59347G>A
• NM_000237.3:c.998G>AMANE SELECT
• NP_000228.1:p.Arg333His
• LRG_1298t1:c.998G>A
• LRG_1298:g.59347G>A
• LRG_1298p1:p.Arg333His
• NC_000008.10:g.19813574G>A
• NC_000008.10:g.19813574G>A
• NG_008855.1:g.21993G>A
• NM_000237.2:c.998G>A

This HGVS expression did not pass validation

Protein change:

R333H

Links:

dbSNP: rs144466625

NCBI 1000 Genomes Browser:

rs144466625

Molecular consequence:

• NM_000237.3:c.998G>A - missense variant - [Sequence Ontology: SO:0001583]