ClinVar

NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107436 (on Assembly GRCh38)
• Chr19: 11218112 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)

Other names:

FH Milan-2

HGVS:

• NC_000019.10:g.11107436G>T
• NG_009060.1:g.23056G>T
• NM_000527.5:c.862G>TMANE SELECT
• NM_001195798.2:c.862G>T
• NM_001195799.2:c.739G>T
• NM_001195800.2:c.358G>T
• NM_001195803.2:c.481G>T
• NP_000518.1:p.Glu288Ter
• NP_000518.1:p.Glu288Ter
• NP_001182727.1:p.Glu288Ter
• NP_001182728.1:p.Glu247Ter
• NP_001182729.1:p.Glu120Ter
• NP_001182732.1:p.Glu161Ter
• LRG_274t1:c.862G>T
• LRG_274:g.23056G>T
• LRG_274p1:p.Glu288Ter
• NC_000019.9:g.11218112G>T
• NM_000527.4:c.862G>T
• c.862G>T

This HGVS expression did not pass validation

Protein change:

E120*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001849;

Molecular consequence:

• NM_000527.5:c.862G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.862G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.739G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.358G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.481G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1