ClinVar

NM_000527.5(LDLR):c.2140+9C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120531 (on Assembly GRCh38)
• Chr19: 11231207 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2140+9C>T

HGVS:

• NC_000019.10:g.11120531C>T
• NG_009060.1:g.36151C>T
• NM_000527.5:c.2140+9C>TMANE SELECT
• NM_001195798.2:c.2140+9C>T
• NM_001195799.2:c.2017+9C>T
• NM_001195800.2:c.1636+9C>T
• NM_001195803.2:c.1606+298C>T
• LRG_274:g.36151C>T
• NC_000019.9:g.11231207C>T
• c.2140+9C>T

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001111; dbSNP: rs879255148

NCBI 1000 Genomes Browser:

rs879255148

Molecular consequence:

• NM_000527.5:c.2140+9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.2140+9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.2017+9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.1636+9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.1606+298C>T - intron variant - [Sequence Ontology: SO:0001627]