ClinVar

NM_000527.5(LDLR):c.1359-1G>A

Genes:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
MIR6886:microRNA 6886 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113534 (on Assembly GRCh38)
• Chr19: 11224210 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1359-1G>A

Other names:

IVS9 as G-A -1

HGVS:

• NC_000019.10:g.11113534G>A
• NG_009060.1:g.29154G>A
• NM_000527.5:c.1359-1G>AMANE SELECT
• NM_001195798.2:c.1359-1G>A
• NM_001195799.2:c.1236-1G>A
• NM_001195800.2:c.855-1G>A
• NM_001195803.2:c.978-1G>A
• LRG_274t1:c.1359-1G>A
• LRG_274:g.29154G>A
• NC_000019.9:g.11224210G>A
• NM_000527.4:c.1359-1G>A
• NR_106946.1:n.61G>A
• c.1359-1G>A

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001405; dbSNP: rs139617694

NCBI 1000 Genomes Browser:

rs139617694

Molecular consequence:

• NR_106946.1:n.61G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000527.5:c.1359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195798.2:c.1359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195799.2:c.1236-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195800.2:c.855-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195803.2:c.978-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]