ClinVar

NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105307 (on Assembly GRCh38)
• Chr19: 11215983 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)

Other names:

FH Alessandria

HGVS:

• NC_000019.10:g.11105307G>T
• NG_009060.1:g.20927G>T
• NM_000527.5:c.401G>TMANE SELECT
• NM_001195798.2:c.401G>T
• NM_001195799.2:c.278G>T
• NM_001195800.2:c.314-2085G>T
• NM_001195803.2:c.314-1258G>T
• NP_000518.1:p.Cys134Phe
• NP_000518.1:p.Cys134Phe
• NP_001182727.1:p.Cys134Phe
• NP_001182728.1:p.Cys93Phe
• LRG_274t1:c.401G>T
• LRG_274:g.20927G>T
• LRG_274p1:p.Cys134Phe
• NC_000019.9:g.11215983G>T
• NM_000527.4:c.401G>T
• P01130:p.Cys134Phe
• c.401G>T

This HGVS expression did not pass validation

Protein change:

C134F

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001725; UniProtKB: P01130#VAR_062371; dbSNP: rs879254514

NCBI 1000 Genomes Browser:

rs879254514

Molecular consequence:

• NM_001195800.2:c.314-2085G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1258G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.401G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.401G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.278G>T - missense variant - [Sequence Ontology: SO:0001583]