ClinVar

NM_000527.5(LDLR):c.1585G>A (p.Gly529Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113761 (on Assembly GRCh38)
• Chr19: 11224437 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1585G>A (p.Gly529Ser)

HGVS:

• NC_000019.10:g.11113761G>A
• NG_009060.1:g.29381G>A
• NM_000527.5:c.1585G>AMANE SELECT
• NM_001195798.2:c.1585G>A
• NM_001195799.2:c.1462G>A
• NM_001195800.2:c.1081G>A
• NM_001195803.2:c.1204G>A
• NP_000518.1:p.Gly529Ser
• NP_000518.1:p.Gly529Ser
• NP_001182727.1:p.Gly529Ser
• NP_001182728.1:p.Gly488Ser
• NP_001182729.1:p.Gly361Ser
• NP_001182732.1:p.Gly402Ser
• LRG_274t1:c.1585G>A
• LRG_274:g.29381G>A
• LRG_274p1:p.Gly529Ser
• NC_000019.9:g.11224437G>A
• NM_000527.4:c.1585G>A

This HGVS expression did not pass validation

Protein change:

G361S

Molecular consequence:

• NM_000527.5:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1462G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]