ClinVar

NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110678 (on Assembly GRCh38)
• Chr19: 11221354 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)

Other names:

NM_000527.5(LDLR):c.967G>A

HGVS:

• NC_000019.10:g.11110678G>A
• NG_009060.1:g.26298G>A
• NM_000527.5:c.967G>AMANE SELECT
• NM_001195798.2:c.967G>A
• NM_001195799.2:c.844G>A
• NM_001195800.2:c.463G>A
• NM_001195803.2:c.586G>A
• NP_000518.1:p.Gly323Ser
• NP_000518.1:p.Gly323Ser
• NP_001182727.1:p.Gly323Ser
• NP_001182728.1:p.Gly282Ser
• NP_001182729.1:p.Gly155Ser
• NP_001182732.1:p.Gly196Ser
• LRG_274t1:c.967G>A
• LRG_274:g.26298G>A
• NC_000019.9:g.11221354G>A
• NM_000527.4(LDLR):c.967G>A
• NM_000527.4:c.967G>A
• c.967G>A

This HGVS expression did not pass validation

Protein change:

G155S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000623; dbSNP: rs373869746

NCBI 1000 Genomes Browser:

rs373869746

Molecular consequence:

• NM_000527.5:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.463G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]