ClinVar

NM_000527.5(LDLR):c.502G>T (p.Asp168Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105408 (on Assembly GRCh38)
• Chr19: 11216084 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.502G>T (p.Asp168Tyr)

HGVS:

• NC_000019.10:g.11105408G>T
• NG_009060.1:g.21028G>T
• NM_000527.5:c.502G>TMANE SELECT
• NM_001195798.2:c.502G>T
• NM_001195799.2:c.379G>T
• NM_001195800.2:c.314-1984G>T
• NM_001195803.2:c.314-1157G>T
• NP_000518.1:p.Asp168Tyr
• NP_001182727.1:p.Asp168Tyr
• NP_001182728.1:p.Asp127Tyr
• LRG_274:g.21028G>T
• NC_000019.9:g.11216084G>T
• P01130:p.Asp168Tyr
• c.502G>T

This HGVS expression did not pass validation

Protein change:

D127Y

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000423; UniProtKB: P01130#VAR_005323; dbSNP: rs200727689

NCBI 1000 Genomes Browser:

rs200727689

Molecular consequence:

• NM_001195800.2:c.314-1984G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1157G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.502G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.502G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.379G>T - missense variant - [Sequence Ontology: SO:0001583]