ClinVar

NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11111603 (on Assembly GRCh38)
• Chr19: 11222279 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)

Other names:

FH Cyprus-2

HGVS:

• NC_000019.10:g.11111603C>T
• NG_009060.1:g.27223C>T
• NM_000527.5:c.1150C>TMANE SELECT
• NM_001195798.2:c.1150C>T
• NM_001195799.2:c.1027C>T
• NM_001195800.2:c.646C>T
• NM_001195803.2:c.769C>T
• NP_000518.1:p.Gln384Ter
• NP_000518.1:p.Gln384Ter
• NP_001182727.1:p.Gln384Ter
• NP_001182728.1:p.Gln343Ter
• NP_001182729.1:p.Gln216Ter
• NP_001182732.1:p.Gln257Ter
• LRG_274t1:c.1150C>T
• LRG_274:g.27223C>T
• LRG_274p1:p.Gln384Ter
• NC_000019.9:g.11222279C>T
• NM_000527.4:c.1150C>T
• c.1150C>T
• p.Gln384*

This HGVS expression did not pass validation

Protein change:

Q216*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000440; dbSNP: rs879254805

NCBI 1000 Genomes Browser:

rs879254805

Molecular consequence:

• NM_000527.5:c.1150C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.1150C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.1027C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.646C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1