ClinVar

NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113752 (on Assembly GRCh38)
• Chr19: 11224428 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)

Other names:

FH Cincinnati-3; NM_000527.5(LDLR):c.1576C>T

HGVS:

• NC_000019.10:g.11113752C>T
• NG_009060.1:g.29372C>T
• NM_000527.5:c.1576C>TMANE SELECT
• NM_001195798.2:c.1576C>T
• NM_001195799.2:c.1453C>T
• NM_001195800.2:c.1072C>T
• NM_001195803.2:c.1195C>T
• NP_000518.1:p.Pro526Ser
• NP_000518.1:p.Pro526Ser
• NP_001182727.1:p.Pro526Ser
• NP_001182728.1:p.Pro485Ser
• NP_001182729.1:p.Pro358Ser
• NP_001182732.1:p.Pro399Ser
• LRG_274t1:c.1576C>T
• LRG_274:g.29372C>T
• LRG_274p1:p.Pro526Ser
• NC_000019.9:g.11224428C>T
• NM_000527.4:c.1576C>T
• P01130:p.Pro526Ser
• c.1576C>T

This HGVS expression did not pass validation

Protein change:

P358S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000076; UniProtKB: P01130#VAR_005396; dbSNP: rs730882106

NCBI 1000 Genomes Browser:

rs730882106

Molecular consequence:

• NM_000527.5:c.1576C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1576C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1453C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1072C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1195C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536] - Comment(s)

• disruptive missense