ClinVar

NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107481 (on Assembly GRCh38)
• Chr19: 11218157 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)

Other names:

NM_000527.5(LDLR):c.907C>T

HGVS:

• NC_000019.10:g.11107481C>T
• NG_009060.1:g.23101C>T
• NM_000527.5:c.907C>TMANE SELECT
• NM_001195798.2:c.907C>T
• NM_001195799.2:c.784C>T
• NM_001195800.2:c.403C>T
• NM_001195803.2:c.526C>T
• NP_000518.1:p.Arg303Trp
• NP_000518.1:p.Arg303Trp
• NP_001182727.1:p.Arg303Trp
• NP_001182728.1:p.Arg262Trp
• NP_001182729.1:p.Arg135Trp
• NP_001182732.1:p.Arg176Trp
• LRG_274t1:c.907C>T
• LRG_274:g.23101C>T
• LRG_274p1:p.Arg303Trp
• NC_000019.9:g.11218157C>T
• NM_000527.4:c.907C>T
• c.907C>T
• p.Arg303Trp

This HGVS expression did not pass validation

Protein change:

R135W

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000512; dbSNP: rs151207122

NCBI 1000 Genomes Browser:

rs151207122

Molecular consequence:

• NM_000527.5:c.907C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.907C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.784C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.403C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]