ClinVar

NM_000527.5(LDLR):c.915G>T (p.Trp305Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107489 (on Assembly GRCh38)
• Chr19: 11218165 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.915G>T (p.Trp305Cys)

Other names:

NM_000527.5(LDLR):c.915G>T; p.Trp305Cys

HGVS:

• NC_000019.10:g.11107489G>T
• NG_009060.1:g.23109G>T
• NM_000527.5:c.915G>TMANE SELECT
• NM_001195798.2:c.915G>T
• NM_001195799.2:c.792G>T
• NM_001195800.2:c.411G>T
• NM_001195803.2:c.534G>T
• NP_000518.1:p.Trp305Cys
• NP_001182727.1:p.Trp305Cys
• NP_001182728.1:p.Trp264Cys
• NP_001182729.1:p.Trp137Cys
• NP_001182732.1:p.Trp178Cys
• LRG_274t1:c.915G>T
• LRG_274:g.23109G>T
• NC_000019.9:g.11218165G>T
• NM_000527.4:c.915G>T

This HGVS expression did not pass validation

Protein change:

W137C

Links:

dbSNP: rs757252110

NCBI 1000 Genomes Browser:

rs757252110

Molecular consequence:

• NM_000527.5:c.915G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.915G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.792G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.411G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.534G>T - missense variant - [Sequence Ontology: SO:0001583]