ClinVar

NM_000527.5(LDLR):c.817+7G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106694 (on Assembly GRCh38)
• Chr19: 11217370 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.817+7G>A

HGVS:

• NC_000019.10:g.11106694G>A
• NG_009060.1:g.22314G>A
• NM_000527.5:c.817+7G>AMANE SELECT
• NM_001195798.2:c.817+7G>A
• NM_001195799.2:c.694+7G>A
• NM_001195800.2:c.314-698G>A
• NM_001195803.2:c.436+7G>A
• LRG_274:g.22314G>A
• NC_000019.9:g.11217370G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs572275000

NCBI 1000 Genomes Browser:

rs572275000

Molecular consequence:

• NM_000527.5:c.817+7G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.817+7G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.694+7G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.314-698G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.436+7G>A - intron variant - [Sequence Ontology: SO:0001627]