ClinVar

NM_000527.5(LDLR):c.544C>T (p.Gln182Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105450 (on Assembly GRCh38)
• Chr19: 11216126 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.544C>T (p.Gln182Ter)

HGVS:

• NC_000019.10:g.11105450C>T
• NG_009060.1:g.21070C>T
• NM_000527.5:c.544C>TMANE SELECT
• NM_001195798.2:c.544C>T
• NM_001195799.2:c.421C>T
• NM_001195800.2:c.314-1942C>T
• NM_001195803.2:c.314-1115C>T
• NP_000518.1:p.Gln182Ter
• NP_001182727.1:p.Gln182Ter
• NP_001182728.1:p.Gln141Ter
• LRG_274:g.21070C>T
• NC_000019.9:g.11216126C>T
• c.544C>T

This HGVS expression did not pass validation

Protein change:

Q141*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000703; dbSNP: rs879254570

NCBI 1000 Genomes Browser:

rs879254570

Molecular consequence:

• NM_001195800.2:c.314-1942C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1115C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.544C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.421C>T - nonsense - [Sequence Ontology: SO:0001587]