ClinVar

NM_000527.5(LDLR):c.1743A>T (p.Lys581Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116896 (on Assembly GRCh38)
• Chr19: 11227572 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1743A>T (p.Lys581Asn)

HGVS:

• NC_000019.10:g.11116896A>T
• NG_009060.1:g.32516A>T
• NM_000527.5:c.1743A>TMANE SELECT
• NM_001195798.2:c.1743A>T
• NM_001195799.2:c.1620A>T
• NM_001195800.2:c.1239A>T
• NM_001195803.2:c.1362A>T
• NP_000518.1:p.Lys581Asn
• NP_000518.1:p.Lys581Asn
• NP_001182727.1:p.Lys581Asn
• NP_001182728.1:p.Lys540Asn
• NP_001182729.1:p.Lys413Asn
• NP_001182732.1:p.Lys454Asn
• LRG_274t1:c.1743A>T
• LRG_274:g.32516A>T
• LRG_274p1:p.Lys581Asn
• NC_000019.9:g.11227572A>T
• NM_000527.4:c.1743A>T

This HGVS expression did not pass validation

Protein change:

K413N

Links:

dbSNP: rs1555806428

NCBI 1000 Genomes Browser:

rs1555806428

Molecular consequence:

• NM_000527.5:c.1743A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1743A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1620A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1239A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1362A>T - missense variant - [Sequence Ontology: SO:0001583]