ClinVar

NM_000527.5(LDLR):c.2575G>A (p.Val859Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11131308 (on Assembly GRCh38)
• Chr19: 11241984 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2575G>A (p.Val859Met)

Other names:

NM_000527.5(LDLR):c.2575G>A; p.Val859Met

HGVS:

• NC_000019.10:g.11131308G>A
• NG_009060.1:g.46928G>A
• NM_000527.5:c.2575G>AMANE SELECT
• NM_001195798.2:c.2569G>A
• NM_001195799.2:c.2452G>A
• NM_001195800.2:c.2071G>A
• NM_001195803.2:c.2041G>A
• NP_000518.1:p.Val859Met
• NP_000518.1:p.Val859Met
• NP_001182727.1:p.Val857Met
• NP_001182728.1:p.Val818Met
• NP_001182729.1:p.Val691Met
• NP_001182732.1:p.Val681Met
• LRG_274t1:c.2575G>A
• LRG_274:g.46928G>A
• LRG_274p1:p.Val859Met
• NC_000019.9:g.11241984G>A
• NM_000527.4:c.2575G>A
• c.2575G>A

This HGVS expression did not pass validation

Protein change:

V681M

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001670; dbSNP: rs202049029

NCBI 1000 Genomes Browser:

rs202049029

Molecular consequence:

• NM_000527.5:c.2575G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2569G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.2452G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.2041G>A - missense variant - [Sequence Ontology: SO:0001583]