ClinVar

NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110730 (on Assembly GRCh38)
• Chr19: 11221406 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe)

HGVS:

• NC_000019.10:g.11110730G>T
• NG_009060.1:g.26350G>T
• NM_000527.5:c.1019G>TMANE SELECT
• NM_001195798.2:c.1019G>T
• NM_001195799.2:c.896G>T
• NM_001195800.2:c.515G>T
• NM_001195803.2:c.638G>T
• NP_000518.1:p.Cys340Phe
• NP_001182727.1:p.Cys340Phe
• NP_001182728.1:p.Cys299Phe
• NP_001182729.1:p.Cys172Phe
• NP_001182732.1:p.Cys213Phe
• LRG_274t1:c.1019G>T
• LRG_274:g.26350G>T
• NC_000019.9:g.11221406G>T
• NM_000527.4:c.1019G>T

This HGVS expression did not pass validation

Protein change:

C172F

Links:

dbSNP: rs755757866

NCBI 1000 Genomes Browser:

rs755757866

Molecular consequence:

• NM_000527.5:c.1019G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1019G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.896G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.515G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.638G>T - missense variant - [Sequence Ontology: SO:0001583]