ClinVar

NM_000527.5(LDLR):c.1359-30C>T

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: 11113505 (on Assembly GRCh38)
• Chr19: 11224181 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1359-30C>T

HGVS:

• NC_000019.10:g.11113505C>T
• NG_009060.1:g.29125C>T
• NM_000527.5:c.1359-30C>TMANE SELECT
• NM_001195798.2:c.1359-30C>T
• NM_001195799.2:c.1236-30C>T
• NM_001195800.2:c.855-30C>T
• NM_001195803.2:c.978-30C>T
• LRG_274t1:c.1359-30C>T
• LRG_274:g.29125C>T
• NC_000019.9:g.11224181C>T
• NM_000527.4:c.1359-30C>T
• NR_106946.1:n.32C>T
• c.1359-30C>T

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001408;

Molecular consequence:

• NM_000527.5:c.1359-30C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.1359-30C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.1236-30C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.855-30C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.978-30C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_106946.1:n.32C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]