ClinVar

NM_000527.5(LDLR):c.941-4G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110648 (on Assembly GRCh38)
• Chr19: 11221324 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.941-4G>A

Other names:

-; IVS6 as G-A -4; .

HGVS:

• NC_000019.10:g.11110648G>A
• NG_009060.1:g.26268G>A
• NM_000527.5:c.941-4G>AMANE SELECT
• NM_001195798.2:c.941-4G>A
• NM_001195799.2:c.818-4G>A
• NM_001195800.2:c.437-4G>A
• NM_001195803.2:c.560-4G>A
• LRG_274t1:c.941-4G>A
• LRG_274:g.26268G>A
• NC_000019.9:g.11221324G>A
• NM_000527.4:c.941-4G>A
• c.941-4G>A

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000515;

Molecular consequence:

• NM_000527.5:c.941-4G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.941-4G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.818-4G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.437-4G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.560-4G>A - intron variant - [Sequence Ontology: SO:0001627]