ClinVar

NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106652 (on Assembly GRCh38)
• Chr19: 11217328 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)

Other names:

C240F

HGVS:

• NC_000019.10:g.11106652G>T
• NG_009060.1:g.22272G>T
• NM_000527.5:c.782G>TMANE SELECT
• NM_001195798.2:c.782G>T
• NM_001195799.2:c.659G>T
• NM_001195800.2:c.314-740G>T
• NM_001195803.2:c.401G>T
• NP_000518.1:p.Cys261Phe
• NP_000518.1:p.Cys261Phe
• NP_001182727.1:p.Cys261Phe
• NP_001182728.1:p.Cys220Phe
• NP_001182732.1:p.Cys134Phe
• LRG_274t1:c.782G>T
• LRG_274:g.22272G>T
• LRG_274p1:p.Cys261Phe
• NC_000019.9:g.11217328G>T
• NM_000527.4:c.782G>T
• P01130:p.Cys261Phe
• c.782G>T

This HGVS expression did not pass validation

Protein change:

C134F; CYS240PHE

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000647; UniProtKB: P01130#VAR_013953; OMIM: 606945.0059; dbSNP: rs121908040

NCBI 1000 Genomes Browser:

rs121908040

Molecular consequence:

• NM_001195800.2:c.314-740G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.782G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.782G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.659G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.401G>T - missense variant - [Sequence Ontology: SO:0001583]