ClinVar

NM_000527.5(LDLR):c.379G>A (p.Val127Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105285 (on Assembly GRCh38)
• Chr19: 11215961 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.379G>A (p.Val127Ile)

HGVS:

• NC_000019.10:g.11105285G>A
• NG_009060.1:g.20905G>A
• NM_000527.5:c.379G>AMANE SELECT
• NM_001195798.2:c.379G>A
• NM_001195799.2:c.256G>A
• NM_001195800.2:c.314-2107G>A
• NM_001195803.2:c.314-1280G>A
• NP_000518.1:p.Val127Ile
• NP_001182727.1:p.Val127Ile
• NP_001182728.1:p.Val86Ile
• LRG_274t1:c.379G>A
• LRG_274:g.20905G>A
• NC_000019.9:g.11215961G>A
• NM_000527.4:c.379G>A

This HGVS expression did not pass validation

Protein change:

V127I

Links:

dbSNP: rs2147223533

NCBI 1000 Genomes Browser:

rs2147223533

Molecular consequence:

• NM_001195800.2:c.314-2107G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1280G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.256G>A - missense variant - [Sequence Ontology: SO:0001583]