ClinVar

NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116936 (on Assembly GRCh38)
• Chr19: 11227612 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)

Other names:

NM_000527.5(LDLR):c.1783C>T

HGVS:

• NC_000019.10:g.11116936C>T
• NG_009060.1:g.32556C>T
• NM_000527.5:c.1783C>TMANE SELECT
• NM_001195798.2:c.1783C>T
• NM_001195799.2:c.1660C>T
• NM_001195800.2:c.1279C>T
• NM_001195803.2:c.1402C>T
• NP_000518.1:p.Arg595Trp
• NP_000518.1:p.Arg595Trp
• NP_001182727.1:p.Arg595Trp
• NP_001182728.1:p.Arg554Trp
• NP_001182729.1:p.Arg427Trp
• NP_001182732.1:p.Arg468Trp
• LRG_274t1:c.1783C>T
• LRG_274:g.32556C>T
• LRG_274p1:p.Arg595Trp
• NC_000019.9:g.11227612C>T
• NM_000527.3:c.1783C>T
• NM_000527.4:c.1783C>T
• P01130:p.Arg595Trp
• c.1783C>T
• p.ARG595TRP

This HGVS expression did not pass validation

Protein change:

R427W

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000239; UniProtKB: P01130#VAR_072856

Molecular consequence:

• NM_000527.5:c.1783C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1783C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1660C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1279C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1402C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2