ClinVar

NM_000527.5(LDLR):c.768C>A (p.Asp256Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106638 (on Assembly GRCh38)
• Chr19: 11217314 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.768C>A (p.Asp256Glu)

HGVS:

• NC_000019.10:g.11106638C>A
• NG_009060.1:g.22258C>A
• NM_000527.5:c.768C>AMANE SELECT
• NM_001195798.2:c.768C>A
• NM_001195799.2:c.645C>A
• NM_001195800.2:c.314-754C>A
• NM_001195803.2:c.387C>A
• NP_000518.1:p.Asp256Glu
• NP_000518.1:p.Asp256Glu
• NP_001182727.1:p.Asp256Glu
• NP_001182728.1:p.Asp215Glu
• NP_001182732.1:p.Asp129Glu
• LRG_274t1:c.768C>A
• LRG_274:g.22258C>A
• LRG_274p1:p.Asp256Glu
• NC_000019.9:g.11217314C>A
• NM_000527.4:c.768C>A

This HGVS expression did not pass validation

Protein change:

D129E

Links:

dbSNP: rs879254671

NCBI 1000 Genomes Browser:

rs879254671

Molecular consequence:

• NM_001195800.2:c.314-754C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.768C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.768C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.645C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.387C>A - missense variant - [Sequence Ontology: SO:0001583]