ClinVar

NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113705 (on Assembly GRCh38)
• Chr19: 11224381 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)

HGVS:

• NC_000019.10:g.11113705C>T
• NG_009060.1:g.29325C>T
• NM_000527.5:c.1529C>TMANE SELECT
• NM_001195798.2:c.1529C>T
• NM_001195799.2:c.1406C>T
• NM_001195800.2:c.1025C>T
• NM_001195803.2:c.1148C>T
• NP_000518.1:p.Thr510Met
• NP_000518.1:p.Thr510Met
• NP_001182727.1:p.Thr510Met
• NP_001182728.1:p.Thr469Met
• NP_001182729.1:p.Thr342Met
• NP_001182732.1:p.Thr383Met
• LRG_274t1:c.1529C>T
• LRG_274:g.29325C>T
• NC_000019.9:g.11224381C>T
• NM_000527.4(LDLR):c.1529C>T
• NM_000527.4:c.1529C>T
• c.1529C>T

This HGVS expression did not pass validation

Protein change:

T342M

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000900; dbSNP: rs755154048

NCBI 1000 Genomes Browser:

rs755154048

Molecular consequence:

• NM_000527.5:c.1529C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1529C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1406C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1148C>T - missense variant - [Sequence Ontology: SO:0001583]