ClinVar

NM_000527.5(LDLR):c.1411A>G (p.Arg471Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113587 (on Assembly GRCh38)
• Chr19: 11224263 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1411A>G (p.Arg471Gly)

HGVS:

• NC_000019.10:g.11113587A>G
• NG_009060.1:g.29207A>G
• NM_000527.5:c.1411A>GMANE SELECT
• NM_001195798.2:c.1411A>G
• NM_001195799.2:c.1288A>G
• NM_001195800.2:c.907A>G
• NM_001195803.2:c.1030A>G
• NP_000518.1:p.Arg471Gly
• NP_001182727.1:p.Arg471Gly
• NP_001182728.1:p.Arg430Gly
• NP_001182729.1:p.Arg303Gly
• NP_001182732.1:p.Arg344Gly
• LRG_274:g.29207A>G
• NC_000019.9:g.11224263A>G
• P01130:p.Arg471Gly
• c.1411A>G

This HGVS expression did not pass validation

Protein change:

R303G

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000197; UniProtKB: P01130#VAR_065783; dbSNP: rs879254891

NCBI 1000 Genomes Browser:

rs879254891

Molecular consequence:

• NM_000527.5:c.1411A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1411A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1288A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.907A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1030A>G - missense variant - [Sequence Ontology: SO:0001583]