ClinVar

NM_000527.5(LDLR):c.1937T>A (p.Leu646Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120183 (on Assembly GRCh38)
• Chr19: 11230859 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1937T>A (p.Leu646Gln)

HGVS:

• NC_000019.10:g.11120183T>A
• NG_009060.1:g.35803T>A
• NM_000527.5:c.1937T>AMANE SELECT
• NM_001195798.2:c.1937T>A
• NM_001195799.2:c.1814T>A
• NM_001195800.2:c.1433T>A
• NM_001195803.2:c.1556T>A
• NP_000518.1:p.Leu646Gln
• NP_000518.1:p.Leu646Gln
• NP_001182727.1:p.Leu646Gln
• NP_001182728.1:p.Leu605Gln
• NP_001182729.1:p.Leu478Gln
• NP_001182732.1:p.Leu519Gln
• LRG_274t1:c.1937T>A
• LRG_274:g.35803T>A
• LRG_274p1:p.Leu646Gln
• NC_000019.9:g.11230859T>A
• NM_000527.4:c.1937T>A

This HGVS expression did not pass validation

Protein change:

L478Q

Links:

dbSNP: rs1555807261

NCBI 1000 Genomes Browser:

rs1555807261

Molecular consequence:

• NM_000527.5:c.1937T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1937T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1814T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1433T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1556T>A - missense variant - [Sequence Ontology: SO:0001583]