ClinVar

NM_000527.5(LDLR):c.1736A>T (p.Asp579Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116889 (on Assembly GRCh38)
• Chr19: 11227565 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1736A>T (p.Asp579Val)

HGVS:

• NC_000019.10:g.11116889A>T
• NG_009060.1:g.32509A>T
• NM_000527.5:c.1736A>TMANE SELECT
• NM_001195798.2:c.1736A>T
• NM_001195799.2:c.1613A>T
• NM_001195800.2:c.1232A>T
• NM_001195803.2:c.1355A>T
• NP_000518.1:p.Asp579Val
• NP_001182727.1:p.Asp579Val
• NP_001182728.1:p.Asp538Val
• NP_001182729.1:p.Asp411Val
• NP_001182732.1:p.Asp452Val
• LRG_274t1:c.1736A>T
• LRG_274:g.32509A>T
• NC_000019.9:g.11227565A>T
• NM_000527.4:c.1736A>T

This HGVS expression did not pass validation

Protein change:

D411V

Links:

dbSNP: rs879255003

NCBI 1000 Genomes Browser:

rs879255003

Molecular consequence:

• NM_000527.5:c.1736A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1736A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1613A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1232A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1355A>T - missense variant - [Sequence Ontology: SO:0001583]