ClinVar

NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110768 (on Assembly GRCh38)
• Chr19: 11221444 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)

HGVS:

• NC_000019.10:g.11110768G>A
• NG_009060.1:g.26388G>A
• NM_000527.5:c.1057G>AMANE SELECT
• NM_001195798.2:c.1057G>A
• NM_001195799.2:c.934G>A
• NM_001195800.2:c.553G>A
• NM_001195803.2:c.676G>A
• NP_000518.1:p.Glu353Lys
• NP_000518.1:p.Glu353Lys
• NP_001182727.1:p.Glu353Lys
• NP_001182728.1:p.Glu312Lys
• NP_001182729.1:p.Glu185Lys
• NP_001182732.1:p.Glu226Lys
• LRG_274t1:c.1057G>A
• LRG_274:g.26388G>A
• LRG_274p1:p.Glu353Lys
• NC_000019.9:g.11221444G>A
• NM_000527.4:c.1057G>A
• c.1057G>A

This HGVS expression did not pass validation

Protein change:

E185K

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000791;

Molecular consequence:

• NM_000527.5:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.553G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

unknown functional consequence - Comment(s)

• unclear