ClinVar

NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120370 (on Assembly GRCh38)
• Chr19: 11231046 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu)

HGVS:

• NC_000019.10:g.11120370G>A
• NG_009060.1:g.35990G>A
• NM_000527.5:c.1988G>AMANE SELECT
• NM_001195798.2:c.1988G>A
• NM_001195799.2:c.1865G>A
• NM_001195800.2:c.1484G>A
• NM_001195803.2:c.1606+137G>A
• NP_000518.1:p.Gly663Glu
• NP_001182727.1:p.Gly663Glu
• NP_001182728.1:p.Gly622Glu
• NP_001182729.1:p.Gly495Glu
• LRG_274:g.35990G>A
• NC_000019.9:g.11231046G>A
• c.1988G>A

This HGVS expression did not pass validation

Protein change:

G495E

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000367; dbSNP: rs879255102

NCBI 1000 Genomes Browser:

rs879255102

Molecular consequence:

• NM_001195803.2:c.1606+137G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.1988G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1988G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1865G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]