ClinVar

NM_000527.5(LDLR):c.1845+2T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11117000 (on Assembly GRCh38)
• Chr19: 11227676 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1845+2T>C

Other names:

FH Niigata

HGVS:

• NC_000019.10:g.11117000T>C
• NG_009060.1:g.32620T>C
• NM_000527.5:c.1845+2T>CMANE SELECT
• NM_001195798.2:c.1845+2T>C
• NM_001195799.2:c.1722+2T>C
• NM_001195800.2:c.1341+2T>C
• NM_001195803.2:c.1464+2T>C
• LRG_274t1:c.1845+2T>C
• LRG_274:g.32620T>C
• NC_000019.9:g.11227676T>C
• NM_000527.4:c.1845+2T>C
• c.1845+2T>C

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001533;

Molecular consequence:

• NM_000527.5:c.1845+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195798.2:c.1845+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195799.2:c.1722+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195800.2:c.1341+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195803.2:c.1464+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

2