ClinVar

NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120106 (on Assembly GRCh38)
• Chr19: 11230782 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)

Other names:

p.Trp620*

HGVS:

• NC_000019.10:g.11120106G>A
• NG_009060.1:g.35726G>A
• NM_000527.5:c.1860G>AMANE SELECT
• NM_001195798.2:c.1860G>A
• NM_001195799.2:c.1737G>A
• NM_001195800.2:c.1356G>A
• NM_001195803.2:c.1479G>A
• NP_000518.1:p.Trp620Ter
• NP_000518.1:p.Trp620Ter
• NP_001182727.1:p.Trp620Ter
• NP_001182728.1:p.Trp579Ter
• NP_001182729.1:p.Trp452Ter
• NP_001182732.1:p.Trp493Ter
• LRG_274t1:c.1860G>A
• LRG_274:g.35726G>A
• LRG_274p1:p.Trp620Ter
• NC_000019.9:g.11230782G>A
• NM_000527.4:c.1860G>A
• c.1860G>A

This HGVS expression did not pass validation

Protein change:

W452*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001536; dbSNP: rs875989933

NCBI 1000 Genomes Browser:

rs875989933

Molecular consequence:

• NM_000527.5:c.1860G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.1860G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.1737G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.1356G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.1479G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1