ClinVar

NM_000527.5(LDLR):c.1298A>T (p.Asp433Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113389 (on Assembly GRCh38)
• Chr19: 11224065 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1298A>T (p.Asp433Val)

HGVS:

• NC_000019.10:g.11113389A>T
• NG_009060.1:g.29009A>T
• NM_000527.5:c.1298A>TMANE SELECT
• NM_001195798.2:c.1298A>T
• NM_001195799.2:c.1175A>T
• NM_001195800.2:c.794A>T
• NM_001195803.2:c.917A>T
• NP_000518.1:p.Asp433Val
• NP_000518.1:p.Asp433Val
• NP_001182727.1:p.Asp433Val
• NP_001182728.1:p.Asp392Val
• NP_001182729.1:p.Asp265Val
• NP_001182732.1:p.Asp306Val
• LRG_274t1:c.1298A>T
• LRG_274:g.29009A>T
• LRG_274p1:p.Asp433Val
• NC_000019.9:g.11224065A>T
• NM_000527.4:c.1298A>T

This HGVS expression did not pass validation

Protein change:

D265V

Molecular consequence:

• NM_000527.5:c.1298A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1298A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1175A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.794A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.917A>T - missense variant - [Sequence Ontology: SO:0001583]