ClinVar

NM_000237.3(LPL):c.590G>A (p.Arg197His)

Gene:

LPL:lipoprotein lipase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

• Chr8: 19954168 (on Assembly GRCh38)
• Chr8: 19811679 (on Assembly GRCh37)

Preferred name:

NM_000237.3(LPL):c.590G>A (p.Arg197His)

HGVS:

• NC_000008.11:g.19954168G>A
• NG_008855.2:g.57452G>A
• NM_000237.3:c.590G>AMANE SELECT
• NP_000228.1:p.Arg197His
• LRG_1298t1:c.590G>A
• LRG_1298:g.57452G>A
• LRG_1298p1:p.Arg197His
• NC_000008.10:g.19811679G>A
• NC_000008.10:g.19811679G>A
• NG_008855.1:g.20098G>A
• NM_000237.2:c.590G>A
• NM_000237.3(LPL):c.590G>AMANE SELECT
• p.Arg197His

This HGVS expression did not pass validation

Protein change:

R197H

Links:

dbSNP: rs372668179

NCBI 1000 Genomes Browser:

rs372668179

Molecular consequence:

• NM_000237.3:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1