ClinVar

NM_000527.5(LDLR):c.2141-180del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11122978 (on Assembly GRCh38)
• Chr19: 11233654 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2141-180del

HGVS:

• NC_000019.10:g.11122994del
• NG_009060.1:g.38614del
• NM_000527.5:c.2141-180delMANE SELECT
• NM_001195798.2:c.2141-180del
• NM_001195799.2:c.2018-180del
• NM_001195800.2:c.1637-180del
• NM_001195803.2:c.1607-180del
• LRG_274:g.38614del
• NC_000019.9:g.11233670del

This HGVS expression did not pass validation

Links:

dbSNP: rs35951147

NCBI 1000 Genomes Browser:

rs35951147

Molecular consequence:

• NM_000527.5:c.2141-180del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.2141-180del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.2018-180del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.1637-180del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.1607-180del - intron variant - [Sequence Ontology: SO:0001627]