ClinVar

NM_000527.4(LDLR):c.-172G>A

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: 11089377 (on Assembly GRCh38)
• Chr19: 11200053 (on Assembly GRCh37)

Preferred name:

NM_000527.4(LDLR):c.-172G>A

HGVS:

• NC_000019.10:g.11089377G>A
• NG_009060.1:g.4997G>A
• NM_000527.4:c.-172G>A
• NM_001195798.1:c.-172G>A
• NM_001195799.1:c.-172G>A
• NM_001195800.1:c.-172G>A
• NM_001195803.1:c.-172G>A
• LRG_274t1:c.-172G>A
• LRG_274:g.4997G>A
• NC_000019.9:g.11200053G>A
• NR_163945.1:n.283C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555800629

NCBI 1000 Genomes Browser:

rs1555800629

Molecular consequence:

• NR_163945.1:n.283C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]