ClinVar

NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116882 (on Assembly GRCh38)
• Chr19: 11227558 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)

Other names:

NP_000518.1:p.W577R

HGVS:

• NC_000019.10:g.11116882T>C
• NG_009060.1:g.32502T>C
• NM_000527.5:c.1729T>CMANE SELECT
• NM_001195798.2:c.1729T>C
• NM_001195799.2:c.1606T>C
• NM_001195800.2:c.1225T>C
• NM_001195803.2:c.1348T>C
• NP_000518.1:p.Trp577Arg
• NP_000518.1:p.Trp577Arg
• NP_001182727.1:p.Trp577Arg
• NP_001182728.1:p.Trp536Arg
• NP_001182729.1:p.Trp409Arg
• NP_001182732.1:p.Trp450Arg
• LRG_274t1:c.1729T>C
• LRG_274:g.32502T>C
• LRG_274p1:p.Trp577Arg
• NC_000019.9:g.11227558T>C
• NM_000527.4:c.1729T>C
• c.1729T>C

This HGVS expression did not pass validation

Protein change:

W409R

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000802; dbSNP: rs879255000

NCBI 1000 Genomes Browser:

rs879255000

Molecular consequence:

• NM_000527.5:c.1729T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1729T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1606T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1225T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1348T>C - missense variant - [Sequence Ontology: SO:0001583]