ClinVar

NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11102765 (on Assembly GRCh38)
• Chr19: 11213441 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)

HGVS:

• NC_000019.10:g.11102765G>A
• NG_009060.1:g.18385G>A
• NM_000527.5:c.292G>AMANE SELECT
• NM_001195798.2:c.292G>A
• NM_001195799.2:c.190+2420G>A
• NM_001195800.2:c.292G>A
• NM_001195803.2:c.292G>A
• NP_000518.1:p.Gly98Ser
• NP_000518.1:p.Gly98Ser
• NP_001182727.1:p.Gly98Ser
• NP_001182729.1:p.Gly98Ser
• NP_001182732.1:p.Gly98Ser
• LRG_274t1:c.292G>A
• LRG_274:g.18385G>A
• LRG_274p1:p.Gly98Ser
• NC_000019.9:g.11213441G>A
• NM_000527.4:c.292G>A
• c.292G>A

This HGVS expression did not pass validation

Protein change:

G98S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001032; dbSNP: rs750474121

NCBI 1000 Genomes Browser:

rs750474121

Molecular consequence:

• NM_001195799.2:c.190+2420G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.292G>A - missense variant - [Sequence Ontology: SO:0001583]