ClinVar

NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)

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>C (p.Gly529Arg)

HGVS:

• NC_000019.10:g.11113761G>C
• NG_009060.1:g.29381G>C
• NM_000527.5:c.1585G>CMANE SELECT
• NM_001195798.2:c.1585G>C
• NM_001195799.2:c.1462G>C
• NM_001195800.2:c.1081G>C
• NM_001195803.2:c.1204G>C
• NP_000518.1:p.Gly529Arg
• NP_000518.1:p.Gly529Arg
• NP_001182727.1:p.Gly529Arg
• NP_001182728.1:p.Gly488Arg
• NP_001182729.1:p.Gly361Arg
• NP_001182732.1:p.Gly402Arg
• LRG_274t1:c.1585G>C
• LRG_274:g.29381G>C
• LRG_274p1:p.Gly529Arg
• NC_000019.9:g.11224437G>C
• NM_000527.4:c.1585G>C

This HGVS expression did not pass validation

Protein change:

G361R

Links:

Molecular consequence:

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

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense