ClinVar

NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110766 (on Assembly GRCh38)
• Chr19: 11221442 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe)

HGVS:

• NC_000019.10:g.11110766G>T
• NG_009060.1:g.26386G>T
• NM_000527.4:c.1055G>T
• NM_000527.5:c.1055G>TMANE SELECT
• NM_001195798.2:c.1055G>T
• NM_001195799.2:c.932G>T
• NM_001195800.2:c.551G>T
• NM_001195803.2:c.674G>T
• NP_000518.1:p.Cys352Phe
• NP_001182727.1:p.Cys352Phe
• NP_001182728.1:p.Cys311Phe
• NP_001182729.1:p.Cys184Phe
• NP_001182732.1:p.Cys225Phe
• LRG_274t1:c.1055G>T
• LRG_274:g.26386G>T
• NC_000019.9:g.11221442G>T
• c.1055G>T

This HGVS expression did not pass validation

Protein change:

C184F

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001340; dbSNP: rs193922566

NCBI 1000 Genomes Browser:

rs193922566

Molecular consequence:

• NM_000527.5:c.1055G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1055G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.932G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.551G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.674G>T - missense variant - [Sequence Ontology: SO:0001583]