ClinVar

NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11129569 (on Assembly GRCh38)
• Chr19: 11240245 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln)

Other names:

NM_000527.5(LDLR):c.2446A>C; p.Lys816Gln

HGVS:

• NC_000019.10:g.11129569A>C
• NG_009060.1:g.45189A>C
• NM_000527.5:c.2446A>CMANE SELECT
• NM_001195798.2:c.2446A>C
• NM_001195799.2:c.2323A>C
• NM_001195800.2:c.1942A>C
• NM_001195803.2:c.1912A>C
• NP_000518.1:p.Lys816Gln
• NP_000518.1:p.Lys816Gln
• NP_001182727.1:p.Lys816Gln
• NP_001182728.1:p.Lys775Gln
• NP_001182729.1:p.Lys648Gln
• NP_001182732.1:p.Lys638Gln
• LRG_274t1:c.2446A>C
• LRG_274:g.45189A>C
• LRG_274p1:p.Lys816Gln
• NC_000019.9:g.11240245A>C
• NM_000527.4:c.2446A>C

This HGVS expression did not pass validation

Protein change:

K638Q

Links:

dbSNP: rs879255213

NCBI 1000 Genomes Browser:

rs879255213

Molecular consequence:

• NM_000527.5:c.2446A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2446A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.2323A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1942A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1912A>C - missense variant - [Sequence Ontology: SO:0001583]