ClinVar

NM_000527.5(LDLR):c.940+2T>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107516 (on Assembly GRCh38)
• Chr19: 11218192 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.940+2T>A

HGVS:

• NC_000019.10:g.11107516T>A
• NG_009060.1:g.23136T>A
• NM_000527.5:c.940+2T>AMANE SELECT
• NM_001195798.2:c.940+2T>A
• NM_001195799.2:c.817+2T>A
• NM_001195800.2:c.436+2T>A
• NM_001195803.2:c.559+2T>A
• LRG_274t1:c.940+2T>A
• LRG_274:g.23136T>A
• NC_000019.9:g.11218192T>A
• NM_000527.4:c.940+2T>A
• c.940+2T>A

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001877; dbSNP: rs875989912

NCBI 1000 Genomes Browser:

rs875989912

Molecular consequence:

• NM_000527.5:c.940+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195798.2:c.940+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195799.2:c.817+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195800.2:c.436+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195803.2:c.559+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

2