ClinVar

NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11102696 (on Assembly GRCh38)
• Chr19: 11213372 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)

HGVS:

• NC_000019.10:g.11102696T>A
• NG_009060.1:g.18316T>A
• NM_000527.5:c.223T>AMANE SELECT
• NM_001195798.2:c.223T>A
• NM_001195799.2:c.190+2351T>A
• NM_001195800.2:c.223T>A
• NM_001195803.2:c.223T>A
• NP_000518.1:p.Cys75Ser
• NP_000518.1:p.Cys75Ser
• NP_001182727.1:p.Cys75Ser
• NP_001182729.1:p.Cys75Ser
• NP_001182732.1:p.Cys75Ser
• LRG_274t1:c.223T>A
• LRG_274:g.18316T>A
• LRG_274p1:p.Cys75Ser
• NC_000019.9:g.11213372T>A
• NM_000527.4:c.223T>A
• c.223T>A

This HGVS expression did not pass validation

Protein change:

C75S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000684; dbSNP: rs879254439

NCBI 1000 Genomes Browser:

rs879254439

Molecular consequence:

• NM_001195799.2:c.190+2351T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.223T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.223T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.223T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.223T>A - missense variant - [Sequence Ontology: SO:0001583]