ClinVar

NM_000527.5(LDLR):c.790A>C (p.Met264Leu)

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>C (p.Met264Leu)

HGVS:

• NC_000019.10:g.11106660A>C
• NG_009060.1:g.22280A>C
• NM_000527.5:c.790A>CMANE SELECT
• NM_001195798.2:c.790A>C
• NM_001195799.2:c.667A>C
• NM_001195800.2:c.314-732A>C
• NM_001195803.2:c.409A>C
• NP_000518.1:p.Met264Leu
• NP_000518.1:p.Met264Leu
• NP_001182727.1:p.Met264Leu
• NP_001182728.1:p.Met223Leu
• NP_001182732.1:p.Met137Leu
• LRG_274t1:c.790A>C
• LRG_274:g.22280A>C
• LRG_274p1:p.Met264Leu
• NC_000019.9:g.11217336A>C
• NM_000527.4:c.790A>C

This HGVS expression did not pass validation

Protein change:

M137L

Links:

dbSNP: rs730882088

NCBI 1000 Genomes Browser:

rs730882088

Molecular consequence:

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

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense