ClinVar

NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110737 (on Assembly GRCh38)
• Chr19: 11221413 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)

Other names:

FH New York-1

HGVS:

• NC_000019.10:g.11110737C>G
• NG_009060.1:g.26357C>G
• NM_000527.5:c.1026C>GMANE SELECT
• NM_001195798.2:c.1026C>G
• NM_001195799.2:c.903C>G
• NM_001195800.2:c.522C>G
• NM_001195803.2:c.645C>G
• NP_000518.1:p.Asp342Glu
• NP_000518.1:p.Asp342Glu
• NP_001182727.1:p.Asp342Glu
• NP_001182728.1:p.Asp301Glu
• NP_001182729.1:p.Asp174Glu
• NP_001182732.1:p.Asp215Glu
• LRG_274t1:c.1026C>G
• LRG_274:g.26357C>G
• LRG_274p1:p.Asp342Glu
• NC_000019.9:g.11221413C>G
• NM_000527.4:c.1026C>G
• P01130:p.Asp342Glu
• c.1026C>G

This HGVS expression did not pass validation

Protein change:

D174E

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001327; UniProtKB: P01130#VAR_005365; dbSNP: rs780563386

NCBI 1000 Genomes Browser:

rs780563386

Molecular consequence:

• NM_000527.5:c.1026C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1026C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.903C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.522C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.645C>G - missense variant - [Sequence Ontology: SO:0001583]