ClinVar

NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11100327 (on Assembly GRCh38)
• Chr19: 11211003 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)

HGVS:

• NC_000019.10:g.11100327G>T
• NG_009060.1:g.15947G>T
• NM_000527.5:c.172G>TMANE SELECT
• NM_001195798.2:c.172G>T
• NM_001195799.2:c.172G>T
• NM_001195800.2:c.172G>T
• NM_001195803.2:c.172G>T
• NP_000518.1:p.Glu58Ter
• NP_000518.1:p.Glu58Ter
• NP_001182727.1:p.Glu58Ter
• NP_001182728.1:p.Glu58Ter
• NP_001182729.1:p.Glu58Ter
• NP_001182732.1:p.Glu58Ter
• LRG_274t1:c.172G>T
• LRG_274:g.15947G>T
• LRG_274p1:p.Glu58Ter
• NC_000019.9:g.11211003G>T
• NM_000527.4:c.172G>T

This HGVS expression did not pass validation

Protein change:

E58*

Links:

dbSNP: rs879254423

NCBI 1000 Genomes Browser:

rs879254423

Molecular consequence:

• NM_000527.5:c.172G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.172G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.172G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.172G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.172G>T - nonsense - [Sequence Ontology: SO:0001587]