ClinVar

NM_000527.5(LDLR):c.790A>G (p.Met264Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106660 (on Assembly GRCh38)
• Chr19: 11217336 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.790A>G (p.Met264Val)

HGVS:

• NC_000019.10:g.11106660A>G
• NG_009060.1:g.22280A>G
• NM_000527.5:c.790A>GMANE SELECT
• NM_001195798.2:c.790A>G
• NM_001195799.2:c.667A>G
• NM_001195800.2:c.314-732A>G
• NM_001195803.2:c.409A>G
• NP_000518.1:p.Met264Val
• NP_001182727.1:p.Met264Val
• NP_001182728.1:p.Met223Val
• NP_001182732.1:p.Met137Val
• LRG_274:g.22280A>G
• NC_000019.9:g.11217336A>G
• c.790A>G

This HGVS expression did not pass validation

Protein change:

M137V

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001840; dbSNP: rs730882088

NCBI 1000 Genomes Browser:

rs730882088

Molecular consequence:

• NM_001195800.2:c.314-732A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.790A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.790A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.667A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.409A>G - missense variant - [Sequence Ontology: SO:0001583]