ClinVar

NM_000527.5(LDLR):c.940+17G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107531 (on Assembly GRCh38)
• Chr19: 11218207 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.940+17G>T

HGVS:

• NC_000019.10:g.11107531G>T
• NG_009060.1:g.23151G>T
• NM_000527.5:c.940+17G>TMANE SELECT
• NM_001195798.2:c.940+17G>T
• NM_001195799.2:c.817+17G>T
• NM_001195800.2:c.436+17G>T
• NM_001195803.2:c.559+17G>T
• LRG_274:g.23151G>T
• NC_000019.9:g.11218207G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000527.5:c.940+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195798.2:c.940+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195799.2:c.817+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195800.2:c.436+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.559+17G>T - intron variant - [Sequence Ontology: SO:0001627]