ClinVar

NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105588 (on Assembly GRCh38)
• Chr19: 11216264 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)

Other names:

E207K; FH Mexico; FH French Canadian 3; FH Canadian-3; FH Modena; FH French Canadian-3; FH Mexico 3; NP_000518.1:p.E228K; NM_000527.5(LDLR):c.682G>A

HGVS:

• NC_000019.10:g.11105588G>A
• NG_009060.1:g.21208G>A
• NM_000527.5:c.682G>AMANE SELECT
• NM_001195798.2:c.682G>A
• NM_001195799.2:c.559G>A
• NM_001195800.2:c.314-1804G>A
• NM_001195803.2:c.314-977G>A
• NP_000518.1:p.Glu228Lys
• NP_000518.1:p.Glu228Lys
• NP_001182727.1:p.Glu228Lys
• NP_001182728.1:p.Glu187Lys
• LRG_274t1:c.682G>A
• LRG_274:g.21208G>A
• LRG_274p1:p.Glu228Lys
• NC_000019.9:g.11216264G>A
• NM_000527.4:c.682G>A
• P01130:p.Glu228Lys
• c.682G>A

This HGVS expression did not pass validation

Protein change:

E187K; GLU207LYS

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000105; UniProtKB: P01130#VAR_005341; OMIM: 606945.0007

Molecular consequence:

• NM_001195800.2:c.314-1804G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-977G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]