ClinVar

NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11123248 (on Assembly GRCh38)
• Chr19: 11233924 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)

Other names:

NP_000518.1:p.Q739*; NM_000527.5(LDLR):c.2215C>T; p.Gln739Ter

HGVS:

• NC_000019.10:g.11123248C>T
• NG_009060.1:g.38868C>T
• NM_000527.5:c.2215C>TMANE SELECT
• NM_001195798.2:c.2215C>T
• NM_001195799.2:c.2092C>T
• NM_001195800.2:c.1711C>T
• NM_001195803.2:c.1681C>T
• NP_000518.1:p.Gln739Ter
• NP_000518.1:p.Gln739Ter
• NP_001182727.1:p.Gln739Ter
• NP_001182728.1:p.Gln698Ter
• NP_001182729.1:p.Gln571Ter
• NP_001182732.1:p.Gln561Ter
• LRG_274t1:c.2215C>T
• LRG_274:g.38868C>T
• LRG_274p1:p.Gln739Ter
• NC_000019.9:g.11233924C>T
• NM_000527.4:c.2215C>T
• c.2215C>T
• p.(Gln739*)
• p.Gln739*

This HGVS expression did not pass validation

Protein change:

Q561*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000289; dbSNP: rs370018159

NCBI 1000 Genomes Browser:

rs370018159

Molecular consequence:

• NM_000527.5:c.2215C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.2215C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.2092C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.1711C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.1681C>T - nonsense - [Sequence Ontology: SO:0001587]