ClinVar

NM_000527.5(LDLR):c.2000G>T (p.Cys667Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120382 (on Assembly GRCh38)
• Chr19: 11231058 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2000G>T (p.Cys667Phe)

HGVS:

• NC_000019.10:g.11120382G>T
• NG_009060.1:g.36002G>T
• NM_000527.4:c.2000G>T
• NM_000527.5:c.2000G>TMANE SELECT
• NM_001195798.2:c.2000G>T
• NM_001195799.2:c.1877G>T
• NM_001195800.2:c.1496G>T
• NM_001195803.2:c.1606+149G>T
• NP_000518.1:p.Cys667Phe
• NP_001182727.1:p.Cys667Phe
• NP_001182728.1:p.Cys626Phe
• NP_001182729.1:p.Cys499Phe
• LRG_274t1:c.2000G>T
• LRG_274:g.36002G>T
• NC_000019.9:g.11231058G>T
• c.2000G>T

This HGVS expression did not pass validation

Protein change:

C499F

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000392; dbSNP: rs28942083

NCBI 1000 Genomes Browser:

rs28942083

Molecular consequence:

• NM_001195803.2:c.1606+149G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2000G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2000G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1877G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1496G>T - missense variant - [Sequence Ontology: SO:0001583]