ClinVar

NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105346 (on Assembly GRCh38)
• Chr19: 11216022 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)

Other names:

NM_000527.5(LDLR):c.440C>T; p.Thr147Ile

HGVS:

• NC_000019.10:g.11105346C>T
• NG_009060.1:g.20966C>T
• NM_000527.5:c.440C>TMANE SELECT
• NM_001195798.2:c.440C>T
• NM_001195799.2:c.317C>T
• NM_001195800.2:c.314-2046C>T
• NM_001195803.2:c.314-1219C>T
• NP_000518.1:p.Thr147Ile
• NP_000518.1:p.Thr147Ile
• NP_001182727.1:p.Thr147Ile
• NP_001182728.1:p.Thr106Ile
• LRG_274t1:c.440C>T
• LRG_274:g.20966C>T
• LRG_274p1:p.Thr147Ile
• NC_000019.9:g.11216022C>T
• NM_000527.4:c.440C>T
• c.440C>T
• p.(Thr147Ile)

This HGVS expression did not pass validation

Protein change:

T106I

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000314; dbSNP: rs879254524

NCBI 1000 Genomes Browser:

rs879254524

Molecular consequence:

• NM_001195800.2:c.314-2046C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1219C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.440C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.317C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1