ClinVar

NM_000527.5(LDLR):c.2311+1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11123345 (on Assembly GRCh38)
• Chr19: 11234021 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2311+1G>T

HGVS:

• NC_000019.10:g.11123345G>T
• NG_009060.1:g.38965G>T
• NM_000527.5:c.2311+1G>TMANE SELECT
• NM_001195798.2:c.2311+1G>T
• NM_001195799.2:c.2188+1G>T
• NM_001195800.2:c.1807+1G>T
• NM_001195803.2:c.1777+1G>T
• LRG_274t1:c.2311+1G>T
• LRG_274:g.38965G>T
• NC_000019.9:g.11234021G>T
• NM_000527.4:c.2311+1G>T
• c.2311+1G>T

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001627;

Molecular consequence:

• NM_000527.5:c.2311+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195798.2:c.2311+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195799.2:c.2188+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195800.2:c.1807+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195803.2:c.1777+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1