ClinVar

NM_000527.5(LDLR):c.314-20C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105200 (on Assembly GRCh38)
• Chr19: 11215876 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.314-20C>T

HGVS:

• NC_000019.10:g.11105200C>T
• NG_009060.1:g.20820C>T
• NM_000527.5:c.314-20C>TMANE SELECT
• NM_001195798.2:c.314-20C>T
• NM_001195799.2:c.191-20C>T
• NM_001195800.2:c.314-2192C>T
• NM_001195803.2:c.314-1365C>T
• LRG_274:g.20820C>T
• NC_000019.9:g.11215876C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs752849770

NCBI 1000 Genomes Browser:

rs752849770

Molecular consequence:

• NM_000527.5:c.314-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.314-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.191-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.314-2192C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1365C>T - intron variant - [Sequence Ontology: SO:0001627]