ClinVar

NM_000527.5(LDLR):c.281A>T (p.Asp94Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11102754 (on Assembly GRCh38)
• Chr19: 11213430 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.281A>T (p.Asp94Val)

HGVS:

• NC_000019.10:g.11102754A>T
• NG_009060.1:g.18374A>T
• NG_140409.1:g.649A>T
• NM_000527.5:c.281A>TMANE SELECT
• NM_001195798.2:c.281A>T
• NM_001195799.2:c.190+2409A>T
• NM_001195800.2:c.281A>T
• NM_001195803.2:c.281A>T
• NM_001406861.1:c.539A>T
• NP_000518.1:p.Asp94Val
• NP_000518.1:p.Asp94Val
• NP_001182727.1:p.Asp94Val
• NP_001182729.1:p.Asp94Val
• NP_001182732.1:p.Asp94Val
• NP_001393790.1:p.Asp180Val
• LRG_274t1:c.281A>T
• LRG_274:g.18374A>T
• LRG_274p1:p.Asp94Val
• NC_000019.9:g.11213430A>T
• NM_000527.4:c.281A>T

This HGVS expression did not pass validation

Protein change:

D180V

Molecular consequence:

• NM_001195799.2:c.190+2409A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.281A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.281A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.281A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.281A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406861.1:c.539A>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

Observations:

1