ClinVar

NM_000527.5(LDLR):c.1757C>A (p.Ser586Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116910 (on Assembly GRCh38)
• Chr19: 11227586 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1757C>A (p.Ser586Ter)

HGVS:

• NC_000019.10:g.11116910C>A
• NG_009060.1:g.32530C>A
• NM_000527.5:c.1757C>AMANE SELECT
• NM_001195798.2:c.1757C>A
• NM_001195799.2:c.1634C>A
• NM_001195800.2:c.1253C>A
• NM_001195803.2:c.1376C>A
• NP_000518.1:p.Ser586Ter
• NP_000518.1:p.Ser586Ter
• NP_001182727.1:p.Ser586Ter
• NP_001182728.1:p.Ser545Ter
• NP_001182729.1:p.Ser418Ter
• NP_001182732.1:p.Ser459Ter
• LRG_274t1:c.1757C>A
• LRG_274:g.32530C>A
• LRG_274p1:p.Ser586Ter
• NC_000019.9:g.11227586C>A
• NM_000527.4:c.1757C>A

This HGVS expression did not pass validation

Protein change:

S418*

Links:

dbSNP: rs1555806455

NCBI 1000 Genomes Browser:

rs1555806455

Molecular consequence:

• NM_000527.5:c.1757C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.1757C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.1634C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.1253C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.1376C>A - nonsense - [Sequence Ontology: SO:0001587]