ClinVar

NM_000527.5(LDLR):c.394C>T (p.Arg132Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105300 (on Assembly GRCh38)
• Chr19: 11215976 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.394C>T (p.Arg132Trp)

HGVS:

• NC_000019.10:g.11105300C>T
• NG_009060.1:g.20920C>T
• NM_000527.5:c.394C>TMANE SELECT
• NM_001195798.2:c.394C>T
• NM_001195799.2:c.271C>T
• NM_001195800.2:c.314-2092C>T
• NM_001195803.2:c.314-1265C>T
• NP_000518.1:p.Arg132Trp
• NP_001182727.1:p.Arg132Trp
• NP_001182728.1:p.Arg91Trp
• LRG_274:g.20920C>T
• NC_000019.9:g.11215976C>T

This HGVS expression did not pass validation

Protein change:

R132W

Links:

dbSNP: rs368978979

NCBI 1000 Genomes Browser:

rs368978979

Molecular consequence:

• NM_001195800.2:c.314-2092C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1265C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.394C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.394C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.271C>T - missense variant - [Sequence Ontology: SO:0001583]