ClinVar

NM_000237.3(LPL):c.1128C>T (p.Ile376=)

Gene:

LPL:lipoprotein lipase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

• Chr8: 19959369 (on Assembly GRCh38)
• Chr8: 19816880 (on Assembly GRCh37)

Preferred name:

NM_000237.3(LPL):c.1128C>T (p.Ile376=)

HGVS:

• NC_000008.11:g.19959369C>T
• NG_008855.2:g.62653C>T
• NM_000237.3:c.1128C>TMANE SELECT
• NP_000228.1:p.Ile376=
• LRG_1298t1:c.1128C>T
• LRG_1298:g.62653C>T
• LRG_1298p1:p.Ile376=
• NC_000008.10:g.19816880C>T
• NG_008855.1:g.25299C>T
• NM_000237.2:c.1128C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs299

NCBI 1000 Genomes Browser:

rs299

Molecular consequence:

• NM_000237.3:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]