ClinVar

NM_000527.5(LDLR):c.919G>C (p.Asp307His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107493 (on Assembly GRCh38)
• Chr19: 11218169 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.919G>C (p.Asp307His)

HGVS:

• NC_000019.10:g.11107493G>C
• NG_009060.1:g.23113G>C
• NM_000527.5:c.919G>CMANE SELECT
• NM_001195798.2:c.919G>C
• NM_001195799.2:c.796G>C
• NM_001195800.2:c.415G>C
• NM_001195803.2:c.538G>C
• NP_000518.1:p.Asp307His
• NP_000518.1:p.Asp307His
• NP_001182727.1:p.Asp307His
• NP_001182728.1:p.Asp266His
• NP_001182729.1:p.Asp139His
• NP_001182732.1:p.Asp180His
• LRG_274t1:c.919G>C
• LRG_274:g.23113G>C
• LRG_274p1:p.Asp307His
• NC_000019.9:g.11218169G>C
• NM_000527.4:c.919G>C
• c.919G>C

This HGVS expression did not pass validation

Protein change:

D139H

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001251; dbSNP: rs879254719

NCBI 1000 Genomes Browser:

rs879254719

Molecular consequence:

• NM_000527.5:c.919G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.919G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.796G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.415G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.538G>C - missense variant - [Sequence Ontology: SO:0001583]