ClinVar

NM_000527.5(LDLR):c.2341G>T (p.Glu781Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11128037 (on Assembly GRCh38)
• Chr19: 11238713 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2341G>T (p.Glu781Ter)

HGVS:

• NC_000019.10:g.11128037G>T
• NG_009060.1:g.43657G>T
• NM_000527.5:c.2341G>TMANE SELECT
• NM_001195798.2:c.2341G>T
• NM_001195799.2:c.2218G>T
• NM_001195800.2:c.1837G>T
• NM_001195803.2:c.1807G>T
• NP_000518.1:p.Glu781Ter
• NP_001182727.1:p.Glu781Ter
• NP_001182728.1:p.Glu740Ter
• NP_001182729.1:p.Glu613Ter
• NP_001182732.1:p.Glu603Ter
• LRG_274t1:c.2341G>T
• LRG_274:g.43657G>T
• NC_000019.9:g.11238713G>T
• NM_000527.4:c.2341G>T
• p.Glu781*

This HGVS expression did not pass validation

Protein change:

E603*

Links:

dbSNP: rs2147283349

NCBI 1000 Genomes Browser:

rs2147283349

Molecular consequence:

• NM_000527.5:c.2341G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.2341G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.2218G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195800.2:c.1837G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1