ClinVar

NM_000527.5(LDLR):c.783C>A (p.Cys261Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106653 (on Assembly GRCh38)
• Chr19: 11217329 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.783C>A (p.Cys261Ter)

HGVS:

• NC_000019.10:g.11106653C>A
• NG_009060.1:g.22273C>A
• NM_000527.5:c.783C>AMANE SELECT
• NM_001195798.2:c.783C>A
• NM_001195799.2:c.660C>A
• NM_001195800.2:c.314-739C>A
• NM_001195803.2:c.402C>A
• NP_000518.1:p.Cys261Ter
• NP_000518.1:p.Cys261Ter
• NP_001182727.1:p.Cys261Ter
• NP_001182728.1:p.Cys220Ter
• NP_001182732.1:p.Cys134Ter
• LRG_274t1:c.783C>A
• LRG_274:g.22273C>A
• LRG_274p1:p.Cys261Ter
• NC_000019.9:g.11217329C>A
• NM_000527.4:c.783C>A
• p.Cys261*

This HGVS expression did not pass validation

Protein change:

C134*

Links:

dbSNP: rs1057519663

NCBI 1000 Genomes Browser:

rs1057519663

Molecular consequence:

• NM_001195800.2:c.314-739C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.783C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195798.2:c.783C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195799.2:c.660C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001195803.2:c.402C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1