ClinVar

NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105243 (on Assembly GRCh38)
• Chr19: 11215919 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)

Other names:

FH Paris-5; NP_000518.1:p.E113*

HGVS:

• NC_000019.10:g.11105243G>T
• NG_009060.1:g.20863G>T
• NM_000527.5:c.337G>TMANE SELECT
• NM_001195798.2:c.337G>T
• NM_001195799.2:c.214G>T
• NM_001195800.2:c.314-2149G>T
• NM_001195803.2:c.314-1322G>T
• NP_000518.1:p.Glu113Ter
• NP_000518.1:p.Glu113Ter
• NP_001182727.1:p.Glu113Ter
• NP_001182728.1:p.Glu72Ter
• LRG_274t1:c.337G>T
• LRG_274:g.20863G>T
• LRG_274p1:p.Glu113Ter
• NC_000019.9:g.11215919G>T
• NM_000527.4:c.337G>T
• c.337G>T
• p.(Glu113*)
• p.Glu113*

This HGVS expression did not pass validation

Protein change:

E113*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001705;

Molecular consequence:

• NM_001195800.2:c.314-2149G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1322G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.337G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.337G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.214G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

14