ClinVar

NM_000527.5(LDLR):c.669G>A (p.Lys223=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105575 (on Assembly GRCh38)
• Chr19: 11216251 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.669G>A (p.Lys223=)

HGVS:

• NC_000019.10:g.11105575G>A
• NG_009060.1:g.21195G>A
• NM_000527.5:c.669G>AMANE SELECT
• NM_001195798.2:c.669G>A
• NM_001195799.2:c.546G>A
• NM_001195800.2:c.314-1817G>A
• NM_001195803.2:c.314-990G>A
• NP_000518.1:p.Lys223=
• NP_000518.1:p.Lys223=
• NP_001182727.1:p.Lys223=
• NP_001182728.1:p.Lys182=
• LRG_274t1:c.669G>A
• LRG_274:g.21195G>A
• LRG_274p1:p.Lys223=
• NC_000019.9:g.11216251G>A
• NM_000527.4:c.669G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001195800.2:c.314-1817G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-990G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.669G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.669G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.546G>A - synonymous variant - [Sequence Ontology: SO:0001819]