ClinVar

NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113680 (on Assembly GRCh38)
• Chr19: 11224356 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr)

HGVS:

• NC_000019.10:g.11113680G>T
• NG_009060.1:g.29300G>T
• NM_000527.5:c.1504G>TMANE SELECT
• NM_001195798.2:c.1504G>T
• NM_001195799.2:c.1381G>T
• NM_001195800.2:c.1000G>T
• NM_001195803.2:c.1123G>T
• NP_000518.1:p.Asp502Tyr
• NP_000518.1:p.Asp502Tyr
• NP_001182727.1:p.Asp502Tyr
• NP_001182728.1:p.Asp461Tyr
• NP_001182729.1:p.Asp334Tyr
• NP_001182732.1:p.Asp375Tyr
• LRG_274t1:c.1504G>T
• LRG_274:g.29300G>T
• LRG_274p1:p.Asp502Tyr
• NC_000019.9:g.11224356G>T
• NM_000527.4:c.1504G>T
• c.1504G>T

This HGVS expression did not pass validation

Protein change:

D334Y

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000801; dbSNP: rs879254925

NCBI 1000 Genomes Browser:

rs879254925

Molecular consequence:

• NM_000527.5:c.1504G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1504G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1381G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1000G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1123G>T - missense variant - [Sequence Ontology: SO:0001583]