ClinVar

NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120122 (on Assembly GRCh38)
• Chr19: 11230798 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)

HGVS:

• NC_000019.10:g.11120122G>A
• NG_009060.1:g.35742G>A
• NM_000527.5:c.1876G>AMANE SELECT
• NM_001195798.2:c.1876G>A
• NM_001195799.2:c.1753G>A
• NM_001195800.2:c.1372G>A
• NM_001195803.2:c.1495G>A
• NP_000518.1:p.Glu626Lys
• NP_000518.1:p.Glu626Lys
• NP_001182727.1:p.Glu626Lys
• NP_001182728.1:p.Glu585Lys
• NP_001182729.1:p.Glu458Lys
• NP_001182732.1:p.Glu499Lys
• LRG_274t1:c.1876G>A
• LRG_274:g.35742G>A
• LRG_274p1:p.Glu626Lys
• NC_000019.9:g.11230798G>A
• NM_000527.2:c.1876G>A
• NM_000527.4:c.1876G>A
• c.1876G>A

This HGVS expression did not pass validation

Protein change:

E458K

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000258;

Molecular consequence:

• NM_000527.5:c.1876G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1876G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1753G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1495G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

unknown functional consequence - Comment(s)

• unclear