ClinVar

NM_000527.5(LDLR):c.1060+10G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11110781 (on Assembly GRCh38)
• Chr19: 11221457 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1060+10G>A

HGVS:

• NC_000019.10:g.11110781G>A
• NG_009060.1:g.26401G>A
• NM_000527.5:c.1060+10G>AMANE SELECT
• NM_001195798.2:c.1060+10G>A
• NM_001195799.2:c.937+10G>A
• NM_001195800.2:c.556+10G>A
• NM_001195803.2:c.679+10G>A
• LRG_274t1:c.1060+10G>A
• LRG_274:g.26401G>A
• NC_000019.9:g.11221457G>A
• NM_000527.4(LDLR):c.1060+10G>A
• NM_000527.4:c.1060+10G>A
• c.1060+10G>A
• p.(Asp354Glyfs*20)

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000880;

Molecular consequence:

• NM_000527.5:c.1060+10G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.1060+10G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.937+10G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.556+10G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.679+10G>A - intron variant - [Sequence Ontology: SO:0001627]