ClinVar

NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105276 (on Assembly GRCh38)
• Chr19: 11215952 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.370C>T (p.Arg124Trp)

Other names:

FH Utah

HGVS:

• NC_000019.10:g.11105276C>T
• NG_009060.1:g.20896C>T
• NM_000527.5:c.370C>TMANE SELECT
• NM_001195798.2:c.370C>T
• NM_001195799.2:c.247C>T
• NM_001195800.2:c.314-2116C>T
• NM_001195803.2:c.314-1289C>T
• NP_000518.1:p.Arg124Trp
• NP_000518.1:p.Arg124Trp
• NP_001182727.1:p.Arg124Trp
• NP_001182728.1:p.Arg83Trp
• LRG_274t1:c.370C>T
• LRG_274:g.20896C>T
• LRG_274p1:p.Arg124Trp
• NC_000019.9:g.11215952C>T
• NM_000527.4:c.370C>T
• c.370C>T

This HGVS expression did not pass validation

Protein change:

R124W

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000692; dbSNP: rs879254498

NCBI 1000 Genomes Browser:

rs879254498

Molecular consequence:

• NM_001195800.2:c.314-2116C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1289C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]