ClinVar

NM_000527.5(LDLR):c.2044C>T (p.Leu682Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120426 (on Assembly GRCh38)
• Chr19: 11231102 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2044C>T (p.Leu682Phe)

HGVS:

• NC_000019.10:g.11120426C>T
• NG_009060.1:g.36046C>T
• NM_000527.5:c.2044C>TMANE SELECT
• NM_001195798.2:c.2044C>T
• NM_001195799.2:c.1921C>T
• NM_001195800.2:c.1540C>T
• NM_001195803.2:c.1606+193C>T
• NP_000518.1:p.Leu682Phe
• NP_000518.1:p.Leu682Phe
• NP_001182727.1:p.Leu682Phe
• NP_001182728.1:p.Leu641Phe
• NP_001182729.1:p.Leu514Phe
• LRG_274t1:c.2044C>T
• LRG_274:g.36046C>T
• LRG_274p1:p.Leu682Phe
• NC_000019.9:g.11231102C>T
• NM_000527.4:c.2044C>T

This HGVS expression did not pass validation

Protein change:

L514F

Links:

dbSNP: rs1131692220

NCBI 1000 Genomes Browser:

rs1131692220

Molecular consequence:

• NM_001195803.2:c.1606+193C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2044C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2044C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1921C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1540C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2