ClinVar

NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106630 (on Assembly GRCh38)
• Chr19: 11217306 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)

HGVS:

• NC_000019.10:g.11106630C>G
• NG_009060.1:g.22250C>G
• NM_000527.5:c.760C>GMANE SELECT
• NM_001195798.2:c.760C>G
• NM_001195799.2:c.637C>G
• NM_001195800.2:c.314-762C>G
• NM_001195803.2:c.379C>G
• NP_000518.1:p.Gln254Glu
• NP_001182727.1:p.Gln254Glu
• NP_001182728.1:p.Gln213Glu
• NP_001182732.1:p.Gln127Glu
• LRG_274t1:c.760C>G
• LRG_274:g.22250C>G
• NC_000019.9:g.11217306C>G
• NC_000019.9:g.11217306C>G
• NM_000527.4:c.760C>G

This HGVS expression did not pass validation

Protein change:

Q127E

Links:

dbSNP: rs759109699

NCBI 1000 Genomes Browser:

rs759109699

Molecular consequence:

• NM_001195800.2:c.314-762C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.637C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.379C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1