ClinVar

NM_000527.5(LDLR):c.447T>C (p.Gly149=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105353 (on Assembly GRCh38)
• Chr19: 11216029 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.447T>C (p.Gly149=)

HGVS:

• NC_000019.10:g.11105353T>C
• NG_009060.1:g.20973T>C
• NM_000527.5:c.447T>CMANE SELECT
• NM_001195798.2:c.447T>C
• NM_001195799.2:c.324T>C
• NM_001195800.2:c.314-2039T>C
• NM_001195803.2:c.314-1212T>C
• NP_000518.1:p.Gly149=
• NP_000518.1:p.Gly149=
• NP_001182727.1:p.Gly149=
• NP_001182728.1:p.Gly108=
• LRG_274t1:c.447T>C
• LRG_274:g.20973T>C
• LRG_274p1:p.Gly149=
• NC_000019.9:g.11216029T>C
• NM_000527.4:c.447T>C
• c.447T>C

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001187; dbSNP: rs765386678

NCBI 1000 Genomes Browser:

rs765386678

Molecular consequence:

• NM_001195800.2:c.314-2039T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1212T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.447T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.447T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.324T>C - synonymous variant - [Sequence Ontology: SO:0001819]