ClinVar

NM_000527.5(LDLR):c.772del (p.Glu258fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106640 (on Assembly GRCh38)
• Chr19: 11217316 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.772del (p.Glu258fs)

HGVS:

• NC_000019.10:g.11106642del
• NG_009060.1:g.22262del
• NM_000527.5:c.772delMANE SELECT
• NM_001195798.2:c.772del
• NM_001195799.2:c.649del
• NM_001195800.2:c.314-750del
• NM_001195803.2:c.391del
• NP_000518.1:p.Glu258fs
• NP_000518.1:p.Glu258fs
• NP_001182727.1:p.Glu258fs
• NP_001182728.1:p.Glu217fs
• NP_001182732.1:p.Glu131fs
• LRG_274t1:c.772del
• LRG_274:g.22262del
• LRG_274p1:p.Glu258fs
• NC_000019.9:g.11217318del
• NM_000527.4:c.772del

This HGVS expression did not pass validation

Protein change:

E131fs

Links:

dbSNP: rs1568596962

NCBI 1000 Genomes Browser:

rs1568596962

Molecular consequence:

• NM_000527.5:c.772del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195798.2:c.772del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195799.2:c.649del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195803.2:c.391del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001195800.2:c.314-750del - intron variant - [Sequence Ontology: SO:0001627]