ClinVar

NM_000527.5(LDLR):c.153G>A (p.Glu51=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11100308 (on Assembly GRCh38)
• Chr19: 11210984 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.153G>A (p.Glu51=)

HGVS:

• NC_000019.10:g.11100308G>A
• NG_009060.1:g.15928G>A
• NM_000527.5:c.153G>AMANE SELECT
• NM_001195798.2:c.153G>A
• NM_001195799.2:c.153G>A
• NM_001195800.2:c.153G>A
• NM_001195803.2:c.153G>A
• NM_001406861.1:c.411G>A
• NP_000518.1:p.Glu51=
• NP_000518.1:p.Glu51=
• NP_001182727.1:p.Glu51=
• NP_001182728.1:p.Glu51=
• NP_001182729.1:p.Glu51=
• NP_001182732.1:p.Glu51=
• NP_001393790.1:p.Glu137=
• LRG_274t1:c.153G>A
• LRG_274:g.15928G>A
• LRG_274p1:p.Glu51=
• NC_000019.9:g.11210984G>A
• NM_000527.4:c.153G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000527.5:c.153G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.153G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.153G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.153G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.153G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406861.1:c.411G>A - synonymous variant - [Sequence Ontology: SO:0001819]