ClinVar

NM_000527.5(LDLR):c.1358+10G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113459 (on Assembly GRCh38)
• Chr19: 11224135 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1358+10G>T

HGVS:

• NC_000019.10:g.11113459G>T
• NG_009060.1:g.29079G>T
• NM_000527.5:c.1358+10G>TMANE SELECT
• NM_001195798.2:c.1358+10G>T
• NM_001195799.2:c.1235+10G>T
• NM_001195800.2:c.854+10G>T
• NM_001195803.2:c.977+10G>T
• LRG_274:g.29079G>T
• NC_000019.9:g.11224135G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373060981

NCBI 1000 Genomes Browser:

rs373060981

Molecular consequence:

• NM_000527.5:c.1358+10G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.1358+10G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.1235+10G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.854+10G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.977+10G>T - intron variant - [Sequence Ontology: SO:0001627]