ClinVar

NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105273 (on Assembly GRCh38)
• Chr19: 11215949 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)

HGVS:

• NC_000019.10:g.11105273T>C
• NG_009060.1:g.20893T>C
• NM_000527.5:c.367T>CMANE SELECT
• NM_001195798.2:c.367T>C
• NM_001195799.2:c.244T>C
• NM_001195800.2:c.314-2119T>C
• NM_001195803.2:c.314-1292T>C
• NP_000518.1:p.Ser123Pro
• NP_000518.1:p.Ser123Pro
• NP_001182727.1:p.Ser123Pro
• NP_001182728.1:p.Ser82Pro
• LRG_274t1:c.367T>C
• LRG_274:g.20893T>C
• LRG_274p1:p.Ser123Pro
• NC_000019.9:g.11215949T>C
• NM_000527.4:c.367T>C
• c.367T>C
• p.(Ser123Pro)

This HGVS expression did not pass validation

Protein change:

S123P

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001226; dbSNP: rs879254495

NCBI 1000 Genomes Browser:

rs879254495

Molecular consequence:

• NM_001195800.2:c.314-2119T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1292T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2