ClinVar

NM_000527.5(LDLR):c.1355G>T (p.Cys452Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113446 (on Assembly GRCh38)
• Chr19: 11224122 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1355G>T (p.Cys452Phe)

HGVS:

• NC_000019.10:g.11113446G>T
• NG_009060.1:g.29066G>T
• NM_000527.5:c.1355G>TMANE SELECT
• NM_001195798.2:c.1355G>T
• NM_001195799.2:c.1232G>T
• NM_001195800.2:c.851G>T
• NM_001195803.2:c.974G>T
• NP_000518.1:p.Cys452Phe
• NP_000518.1:p.Cys452Phe
• NP_001182727.1:p.Cys452Phe
• NP_001182728.1:p.Cys411Phe
• NP_001182729.1:p.Cys284Phe
• NP_001182732.1:p.Cys325Phe
• LRG_274t1:c.1355G>T
• LRG_274:g.29066G>T
• LRG_274p1:p.Cys452Phe
• NC_000019.9:g.11224122G>T
• NM_000527.4:c.1355G>T

This HGVS expression did not pass validation

Protein change:

C284F

Links:

dbSNP: rs1365474464

NCBI 1000 Genomes Browser:

rs1365474464

Molecular consequence:

• NM_000527.5:c.1355G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1355G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1232G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.851G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.974G>T - missense variant - [Sequence Ontology: SO:0001583]