ClinVar

NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)

Genes:

LDLR-AS1:LDLR antisense RNA 1 [Gene - HGNC]
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11089559 (on Assembly GRCh38)
• Chr19: 11200235 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)

Other names:

FH Columbia-1

HGVS:

• NC_000019.10:g.11089559G>A
• NG_009060.1:g.5179G>A
• NM_000527.5:c.11G>AMANE SELECT
• NM_001195798.2:c.11G>A
• NM_001195799.2:c.11G>A
• NM_001195800.2:c.11G>A
• NM_001195803.2:c.11G>A
• NP_000518.1:p.Trp4Ter
• NP_000518.1:p.Trp4Ter
• NP_001182727.1:p.Trp4Ter
• NP_001182728.1:p.Trp4Ter
• NP_001182729.1:p.Trp4Ter
• NP_001182732.1:p.Trp4Ter
• LRG_274t1:c.11G>A
• LRG_274:g.5179G>A
• LRG_274p1:p.Trp4Ter
• NC_000019.9:g.11200235G>A
• NM_000527.4:c.11G>A
• NR_163945.1:n.101C>T
• c.11G>A
• p.Trp4*

This HGVS expression did not pass validation

Protein change:

W4*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001492; dbSNP: rs201016593

NCBI 1000 Genomes Browser:

rs201016593

Molecular consequence:

• NR_163945.1:n.101C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000527.5:c.11G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.11G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.11G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.11G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.11G>A - nonsense - [Sequence Ontology: SO:0001587]