ClinVar

NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113368 (on Assembly GRCh38)
• Chr19: 11224044 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)

HGVS:

• NC_000019.10:g.11113368T>G
• NG_009060.1:g.28988T>G
• NM_000527.5:c.1277T>GMANE SELECT
• NM_001195798.2:c.1277T>G
• NM_001195799.2:c.1154T>G
• NM_001195800.2:c.773T>G
• NM_001195803.2:c.896T>G
• NP_000518.1:p.Leu426Arg
• NP_001182727.1:p.Leu426Arg
• NP_001182728.1:p.Leu385Arg
• NP_001182729.1:p.Leu258Arg
• NP_001182732.1:p.Leu299Arg
• LRG_274t1:c.1277T>G
• LRG_274:g.28988T>G
• NC_000019.9:g.11224044T>G
• NM_000527.4:c.1277T>G
• p.(Leu426Arg)
• p.Leu426Arg

This HGVS expression did not pass validation

Protein change:

L258R

Links:

dbSNP: rs879254851

NCBI 1000 Genomes Browser:

rs879254851

Molecular consequence:

• NM_000527.5:c.1277T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1277T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1154T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.773T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.896T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1