ClinVar

NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107433 (on Assembly GRCh38)
• Chr19: 11218109 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)

Other names:

NM_000527.5(LDLR):c.859G>A; p.Gly287Ser

HGVS:

• NC_000019.10:g.11107433G>A
• NG_009060.1:g.23053G>A
• NM_000527.5:c.859G>AMANE SELECT
• NM_001195798.2:c.859G>A
• NM_001195799.2:c.736G>A
• NM_001195800.2:c.355G>A
• NM_001195803.2:c.478G>A
• NP_000518.1:p.Gly287Ser
• NP_000518.1:p.Gly287Ser
• NP_001182727.1:p.Gly287Ser
• NP_001182728.1:p.Gly246Ser
• NP_001182729.1:p.Gly119Ser
• NP_001182732.1:p.Gly160Ser
• LRG_274t1:c.859G>A
• LRG_274:g.23053G>A
• LRG_274p1:p.Gly287Ser
• NC_000019.9:g.11218109G>A
• NM_000527.4:c.859G>A
• c.859G>A

This HGVS expression did not pass validation

Protein change:

G119S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001848; dbSNP: rs375495026

NCBI 1000 Genomes Browser:

rs375495026

Molecular consequence:

• NM_000527.5:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]