ClinVar

NM_000527.5(LDLR):c.183G>A (p.Glu61=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11100338 (on Assembly GRCh38)
• Chr19: 11211014 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.183G>A (p.Glu61=)

HGVS:

• NC_000019.10:g.11100338G>A
• NG_009060.1:g.15958G>A
• NM_000527.4:c.183G>A
• NM_000527.5:c.183G>AMANE SELECT
• NM_001195798.2:c.183G>A
• NM_001195799.2:c.183G>A
• NM_001195800.2:c.183G>A
• NM_001195803.2:c.183G>A
• NP_000518.1:p.Glu61=
• NP_001182727.1:p.Glu61=
• NP_001182728.1:p.Glu61=
• NP_001182729.1:p.Glu61=
• NP_001182732.1:p.Glu61=
• LRG_274t1:c.183G>A
• LRG_274:g.15958G>A
• NC_000019.9:g.11211014G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2147210752

NCBI 1000 Genomes Browser:

rs2147210752

Molecular consequence:

• NM_000527.5:c.183G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.183G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.183G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.183G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.183G>A - synonymous variant - [Sequence Ontology: SO:0001819]