ClinVar

NM_000527.5(LDLR):c.926C>A (p.Pro309His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107500 (on Assembly GRCh38)
• Chr19: 11218176 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.926C>A (p.Pro309His)

HGVS:

• NC_000019.10:g.11107500C>A
• NG_009060.1:g.23120C>A
• NM_000527.5:c.926C>AMANE SELECT
• NM_001195798.2:c.926C>A
• NM_001195799.2:c.803C>A
• NM_001195800.2:c.422C>A
• NM_001195803.2:c.545C>A
• NP_000518.1:p.Pro309His
• NP_000518.1:p.Pro309His
• NP_001182727.1:p.Pro309His
• NP_001182728.1:p.Pro268His
• NP_001182729.1:p.Pro141His
• NP_001182732.1:p.Pro182His
• LRG_274t1:c.926C>A
• LRG_274:g.23120C>A
• LRG_274p1:p.Pro309His
• NC_000019.9:g.11218176C>A
• NM_000527.4:c.926C>A

This HGVS expression did not pass validation

Protein change:

P141H

Links:

dbSNP: rs1600715567

NCBI 1000 Genomes Browser:

rs1600715567

Molecular consequence:

• NM_000527.5:c.926C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.926C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.803C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.422C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.545C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1