ClinVar

NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110685 (on Assembly GRCh38)
• Chr19: 11221361 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)

Other names:

NM_000527.5(LDLR):c.974G>A; p.Cys325Tyr

HGVS:

• NC_000019.10:g.11110685G>A
• NG_009060.1:g.26305G>A
• NM_000527.5:c.974G>AMANE SELECT
• NM_001195798.2:c.974G>A
• NM_001195799.2:c.851G>A
• NM_001195800.2:c.470G>A
• NM_001195803.2:c.593G>A
• NP_000518.1:p.Cys325Tyr
• NP_000518.1:p.Cys325Tyr
• NP_001182727.1:p.Cys325Tyr
• NP_001182728.1:p.Cys284Tyr
• NP_001182729.1:p.Cys157Tyr
• NP_001182732.1:p.Cys198Tyr
• LRG_274t1:c.974G>A
• LRG_274:g.26305G>A
• LRG_274p1:p.Cys325Tyr
• NC_000019.9:g.11221361G>A
• NM_000527.4:c.974G>A
• c.974G>A
• p.(Cys325Tyr)

This HGVS expression did not pass validation

Protein change:

C157Y

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001893; dbSNP: rs879254746

NCBI 1000 Genomes Browser:

rs879254746

Molecular consequence:

• NM_000527.5:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.974G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.851G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.470G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]