ClinVar

NM_000527.5(LDLR):c.314-2A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105218 (on Assembly GRCh38)
• Chr19: 11215894 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.314-2A>C

Other names:

IVS3 as A-C -2

HGVS:

• NC_000019.10:g.11105218A>C
• NG_009060.1:g.20838A>C
• NG_140410.1:g.435A>C
• NM_000527.5:c.314-2A>CMANE SELECT
• NM_001195798.2:c.314-2A>C
• NM_001195799.2:c.191-2A>C
• NM_001195800.2:c.314-2174A>C
• NM_001195803.2:c.314-1347A>C
• LRG_274t1:c.314-2A>C
• LRG_274:g.20838A>C
• NC_000019.9:g.11215894A>C
• NM_000527.4:c.314-2A>C
• c.314-2A>C

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000982; dbSNP: rs879254470

NCBI 1000 Genomes Browser:

rs879254470

Molecular consequence:

• NM_001195800.2:c.314-2174A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1347A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.314-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195798.2:c.314-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001195799.2:c.191-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]