ClinVar

NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113313 (on Assembly GRCh38)
• Chr19: 11223989 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)

Other names:

FH Algeria-1; FH Osaka; NM_000527.5(LDLR):c.1222G>A

HGVS:

• NC_000019.10:g.11113313G>A
• NG_009060.1:g.28933G>A
• NM_000527.5:c.1222G>AMANE SELECT
• NM_001195798.2:c.1222G>A
• NM_001195799.2:c.1099G>A
• NM_001195800.2:c.718G>A
• NM_001195803.2:c.841G>A
• NP_000518.1:p.Glu408Lys
• NP_000518.1:p.Glu408Lys
• NP_001182727.1:p.Glu408Lys
• NP_001182728.1:p.Glu367Lys
• NP_001182729.1:p.Glu240Lys
• NP_001182732.1:p.Glu281Lys
• LRG_274t1:c.1222G>A
• LRG_274:g.28933G>A
• LRG_274p1:p.Glu408Lys
• NC_000019.9:g.11223989G>A
• NM_000527.4:c.1222G>A
• P01130:p.Glu408Lys
• c.1222G>A

This HGVS expression did not pass validation

Protein change:

E240K

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001379; UniProtKB: P01130#VAR_005378; dbSNP: rs137943601

NCBI 1000 Genomes Browser:

rs137943601

Molecular consequence:

• NM_000527.5:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.718G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1