ClinVar

NM_000527.5(LDLR):c.1554G>A (p.Lys518=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113730 (on Assembly GRCh38)
• Chr19: 11224406 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1554G>A (p.Lys518=)

HGVS:

• NC_000019.10:g.11113730G>A
• NG_009060.1:g.29350G>A
• NM_000527.5:c.1554G>AMANE SELECT
• NM_001195798.2:c.1554G>A
• NM_001195799.2:c.1431G>A
• NM_001195800.2:c.1050G>A
• NM_001195803.2:c.1173G>A
• NP_000518.1:p.Lys518=
• NP_000518.1:p.Lys518=
• NP_001182727.1:p.Lys518=
• NP_001182728.1:p.Lys477=
• NP_001182729.1:p.Lys350=
• NP_001182732.1:p.Lys391=
• LRG_274t1:c.1554G>A
• LRG_274:g.29350G>A
• LRG_274p1:p.Lys518=
• NC_000019.9:g.11224406G>A
• NM_000527.4:c.1554G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000527.5:c.1554G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1554G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1431G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1050G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1173G>A - synonymous variant - [Sequence Ontology: SO:0001819]