ClinVar

NM_000527.5(LDLR):c.1721G>A (p.Arg574His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116874 (on Assembly GRCh38)
• Chr19: 11227550 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1721G>A (p.Arg574His)

Other names:

NM_000527.5(LDLR):c.1721G>A

HGVS:

• NC_000019.10:g.11116874G>A
• NG_009060.1:g.32494G>A
• NM_000527.5:c.1721G>AMANE SELECT
• NM_001195798.2:c.1721G>A
• NM_001195799.2:c.1598G>A
• NM_001195800.2:c.1217G>A
• NM_001195803.2:c.1340G>A
• NP_000518.1:p.Arg574His
• NP_000518.1:p.Arg574His
• NP_001182727.1:p.Arg574His
• NP_001182728.1:p.Arg533His
• NP_001182729.1:p.Arg406His
• NP_001182732.1:p.Arg447His
• LRG_274t1:c.1721G>A
• LRG_274:g.32494G>A
• LRG_274p1:p.Arg574His
• NC_000019.9:g.11227550G>A
• NM_000527.4:c.1721G>A
• P01130:p.Arg574His
• c.1721G>A

This HGVS expression did not pass validation

Protein change:

R406H

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000233; UniProtKB: P01130#VAR_072852

Molecular consequence:

• NM_000527.5:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1721G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1598G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1217G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1