ClinVar

NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11102705 (on Assembly GRCh38)
• Chr19: 11213381 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)

Other names:

NM_000527.5(LDLR):c.232C>T

HGVS:

• NC_000019.10:g.11102705C>T
• NG_009060.1:g.18325C>T
• NM_000527.5:c.232C>TMANE SELECT
• NM_001195798.2:c.232C>T
• NM_001195799.2:c.190+2360C>T
• NM_001195800.2:c.232C>T
• NM_001195803.2:c.232C>T
• NP_000518.1:p.Arg78Cys
• NP_000518.1:p.Arg78Cys
• NP_001182727.1:p.Arg78Cys
• NP_001182729.1:p.Arg78Cys
• NP_001182732.1:p.Arg78Cys
• LRG_274t1:c.232C>T
• LRG_274:g.18325C>T
• NC_000019.9:g.11213381C>T
• NM_000527.4(LDLR):c.232C>T
• NM_000527.4:c.232C>T
• P01130:p.Arg78Cys
• c.232C>T

This HGVS expression did not pass validation

Protein change:

R78C

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001629; UniProtKB: P01130#VAR_005307; dbSNP: rs370860696

NCBI 1000 Genomes Browser:

rs370860696

Molecular consequence:

• NM_001195799.2:c.190+2360C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.232C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.232C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.232C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.232C>T - missense variant - [Sequence Ontology: SO:0001583]