ClinVar

NM_000527.5(LDLR):c.377T>A (p.Phe126Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105283 (on Assembly GRCh38)
• Chr19: 11215959 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.377T>A (p.Phe126Tyr)

HGVS:

• NC_000019.10:g.11105283T>A
• NG_009060.1:g.20903T>A
• NM_000527.5:c.377T>AMANE SELECT
• NM_001195798.2:c.377T>A
• NM_001195799.2:c.254T>A
• NM_001195800.2:c.314-2109T>A
• NM_001195803.2:c.314-1282T>A
• NP_000518.1:p.Phe126Tyr
• NP_001182727.1:p.Phe126Tyr
• NP_001182728.1:p.Phe85Tyr
• LRG_274:g.20903T>A
• NC_000019.9:g.11215959T>A
• c.377T>A

This HGVS expression did not pass validation

Protein change:

F126Y

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001130; dbSNP: rs879254502

NCBI 1000 Genomes Browser:

rs879254502

Molecular consequence:

• NM_001195800.2:c.314-2109T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1282T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.377T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.377T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.254T>A - missense variant - [Sequence Ontology: SO:0001583]