ClinVar

NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120162 (on Assembly GRCh38)
• Chr19: 11230838 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)

HGVS:

• NC_000019.10:g.11120162T>A
• NG_009060.1:g.35782T>A
• NM_000527.5:c.1916T>AMANE SELECT
• NM_001195798.2:c.1916T>A
• NM_001195799.2:c.1793T>A
• NM_001195800.2:c.1412T>A
• NM_001195803.2:c.1535T>A
• NP_000518.1:p.Val639Asp
• NP_000518.1:p.Val639Asp
• NP_001182727.1:p.Val639Asp
• NP_001182728.1:p.Val598Asp
• NP_001182729.1:p.Val471Asp
• NP_001182732.1:p.Val512Asp
• LRG_274t1:c.1916T>A
• LRG_274:g.35782T>A
• LRG_274p1:p.Val639Asp
• NC_000019.9:g.11230838T>A
• NM_000527.4:c.1916T>A
• P01130:p.Val639Asp
• c.1916T>A

This HGVS expression did not pass validation

Protein change:

V471D

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000625; UniProtKB: P01130#VAR_072858; dbSNP: rs794728584

NCBI 1000 Genomes Browser:

rs794728584

Molecular consequence:

• NM_000527.5:c.1916T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1916T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1793T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1412T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1535T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1