ClinVar

NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105321 (on Assembly GRCh38)
• Chr19: 11215997 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)

Other names:

FH Sassari-2

HGVS:

• NC_000019.10:g.11105321G>A
• NG_009060.1:g.20941G>A
• NM_000527.5:c.415G>AMANE SELECT
• NM_001195798.2:c.415G>A
• NM_001195799.2:c.292G>A
• NM_001195800.2:c.314-2071G>A
• NM_001195803.2:c.314-1244G>A
• NP_000518.1:p.Asp139Asn
• NP_000518.1:p.Asp139Asn
• NP_001182727.1:p.Asp139Asn
• NP_001182728.1:p.Asp98Asn
• LRG_274t1:c.415G>A
• LRG_274:g.20941G>A
• LRG_274p1:p.Asp139Asn
• NC_000019.9:g.11215997G>A
• NM_000527.4:c.415G>A
• c.415G>A

This HGVS expression did not pass validation

Protein change:

D139N

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000413;

Molecular consequence:

• NM_001195800.2:c.314-2071G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1244G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]