ClinVar

NM_000527.5(LDLR):c.314-16C>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105204 (on Assembly GRCh38)
• Chr19: 11215880 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.314-16C>G

HGVS:

• NC_000019.10:g.11105204C>G
• NG_009060.1:g.20824C>G
• NG_140410.1:g.421C>G
• NM_000527.5:c.314-16C>GMANE SELECT
• NM_001195798.2:c.314-16C>G
• NM_001195799.2:c.191-16C>G
• NM_001195800.2:c.314-2188C>G
• NM_001195803.2:c.314-1361C>G
• LRG_274t1:c.314-16C>G
• LRG_274:g.20824C>G
• NC_000019.9:g.11215880C>G
• NM_000527.4:c.314-16C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_000527.5:c.314-16C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.314-16C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.191-16C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.314-2188C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1361C>G - intron variant - [Sequence Ontology: SO:0001627]