ClinVar

NM_000527.5(LDLR):c.1469G>T (p.Trp490Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113645 (on Assembly GRCh38)
• Chr19: 11224321 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1469G>T (p.Trp490Leu)

HGVS:

• NC_000019.10:g.11113645G>T
• NG_009060.1:g.29265G>T
• NM_000527.5:c.1469G>TMANE SELECT
• NM_001195798.2:c.1469G>T
• NM_001195799.2:c.1346G>T
• NM_001195800.2:c.965G>T
• NM_001195803.2:c.1088G>T
• NP_000518.1:p.Trp490Leu
• NP_000518.1:p.Trp490Leu
• NP_001182727.1:p.Trp490Leu
• NP_001182728.1:p.Trp449Leu
• NP_001182729.1:p.Trp322Leu
• NP_001182732.1:p.Trp363Leu
• LRG_274t1:c.1469G>T
• LRG_274:g.29265G>T
• LRG_274p1:p.Trp490Leu
• NC_000019.9:g.11224321G>T
• NM_000527.4:c.1469G>T

This HGVS expression did not pass validation

Protein change:

W322L

Links:

dbSNP: rs875989922

NCBI 1000 Genomes Browser:

rs875989922

Molecular consequence:

• NM_000527.5:c.1469G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1469G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1346G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.965G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1088G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1