ClinVar

NM_000527.5(LDLR):c.899G>C (p.Arg300Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107473 (on Assembly GRCh38)
• Chr19: 11218149 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.899G>C (p.Arg300Thr)

HGVS:

• NC_000019.10:g.11107473G>C
• NG_009060.1:g.23093G>C
• NM_000527.5:c.899G>CMANE SELECT
• NM_001195798.2:c.899G>C
• NM_001195799.2:c.776G>C
• NM_001195800.2:c.395G>C
• NM_001195803.2:c.518G>C
• NP_000518.1:p.Arg300Thr
• NP_000518.1:p.Arg300Thr
• NP_001182727.1:p.Arg300Thr
• NP_001182728.1:p.Arg259Thr
• NP_001182729.1:p.Arg132Thr
• NP_001182732.1:p.Arg173Thr
• LRG_274t1:c.899G>C
• LRG_274:g.23093G>C
• LRG_274p1:p.Arg300Thr
• NC_000019.9:g.11218149G>C
• NM_000527.4:c.899G>C

This HGVS expression did not pass validation

Protein change:

R132T

Molecular consequence:

• NM_000527.5:c.899G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.899G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.776G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.395G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.518G>C - missense variant - [Sequence Ontology: SO:0001583]