ClinVar

NM_000527.5(LDLR):c.2140+5G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120527 (on Assembly GRCh38)
• Chr19: 11231203 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2140+5G>A

Other names:

IVS14 ds G-A +5; .

HGVS:

• NC_000019.10:g.11120527G>A
• NG_009060.1:g.36147G>A
• NM_000527.5:c.2140+5G>AMANE SELECT
• NM_001195798.2:c.2140+5G>A
• NM_001195799.2:c.2017+5G>A
• NM_001195800.2:c.1636+5G>A
• NM_001195803.2:c.1606+294G>A
• LRG_274t1:c.2140+5G>A
• LRG_274:g.36147G>A
• NC_000019.9:g.11231203G>A
• NM_000527.4:c.2140+5G>A
• c.2140+5G>A

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000283;

Molecular consequence:

• NM_000527.5:c.2140+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.2140+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.2017+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.1636+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.1606+294G>A - intron variant - [Sequence Ontology: SO:0001627]