ClinVar

NC_000019.10:g.11089393C>T

Genes:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
LDLR-AS1:LDLR antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11089393 (on Assembly GRCh38)
• Chr19: 11200069 (on Assembly GRCh37)

Preferred name:

NC_000019.10:g.11089393C>T

HGVS:

• NC_000019.10:g.11089393C>T
• NG_009060.1:g.5013C>T
• NM_000527.4:c.-156C>T
• NM_001195798.1:c.-156C>T
• NM_001195799.1:c.-156C>T
• NM_001195800.1:c.-156C>T
• NM_001195803.1:c.-156C>T
• LRG_274t1:c.-156C>T
• LRG_274:g.5013C>T
• NC_000019.9:g.11200069C>T
• NR_163945.1:n.267G>A
• c.-156C>T

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001112; dbSNP: rs879254364

NCBI 1000 Genomes Browser:

rs879254364

Molecular consequence:

• NR_163945.1:n.267G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1