ClinVar

NM_000527.5(LDLR):c.1499T>C (p.Val500Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113675 (on Assembly GRCh38)
• Chr19: 11224351 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1499T>C (p.Val500Ala)

HGVS:

• NC_000019.10:g.11113675T>C
• NG_009060.1:g.29295T>C
• NM_000527.5:c.1499T>CMANE SELECT
• NM_001195798.2:c.1499T>C
• NM_001195799.2:c.1376T>C
• NM_001195800.2:c.995T>C
• NM_001195803.2:c.1118T>C
• NP_000518.1:p.Val500Ala
• NP_000518.1:p.Val500Ala
• NP_001182727.1:p.Val500Ala
• NP_001182728.1:p.Val459Ala
• NP_001182729.1:p.Val332Ala
• NP_001182732.1:p.Val373Ala
• LRG_274t1:c.1499T>C
• LRG_274:g.29295T>C
• LRG_274p1:p.Val500Ala
• NC_000019.9:g.11224351T>C
• NM_000527.4:c.1499T>C

This HGVS expression did not pass validation

Protein change:

V332A

Links:

dbSNP: rs886039833

NCBI 1000 Genomes Browser:

rs886039833

Molecular consequence:

• NM_000527.5:c.1499T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1499T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1376T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.995T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1118T>C - missense variant - [Sequence Ontology: SO:0001583]