ClinVar

NM_000527.5(LDLR):c.851G>C (p.Cys284Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107425 (on Assembly GRCh38)
• Chr19: 11218101 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.851G>C (p.Cys284Ser)

HGVS:

• NC_000019.10:g.11107425G>C
• NG_009060.1:g.23045G>C
• NM_000527.5:c.851G>CMANE SELECT
• NM_001195798.2:c.851G>C
• NM_001195799.2:c.728G>C
• NM_001195800.2:c.347G>C
• NM_001195803.2:c.470G>C
• NP_000518.1:p.Cys284Ser
• NP_001182727.1:p.Cys284Ser
• NP_001182728.1:p.Cys243Ser
• NP_001182729.1:p.Cys116Ser
• NP_001182732.1:p.Cys157Ser
• LRG_274:g.23045G>C
• NC_000019.9:g.11218101G>C
• c.851G>C

This HGVS expression did not pass validation

Protein change:

C116S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001124; dbSNP: rs879254694

NCBI 1000 Genomes Browser:

rs879254694

Molecular consequence:

• NM_000527.5:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.851G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.728G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.347G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.470G>C - missense variant - [Sequence Ontology: SO:0001583]