ClinVar

NM_000527.5(LDLR):c.817+2T>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106689 (on Assembly GRCh38)
• Chr19: 11217365 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.817+2T>G

HGVS:

• NC_000019.10:g.11106689T>G
• NG_009060.1:g.22309T>G
• NM_000527.5:c.817+2T>GMANE SELECT
• NM_001195798.2:c.817+2T>G
• NM_001195799.2:c.694+2T>G
• NM_001195800.2:c.314-703T>G
• NM_001195803.2:c.436+2T>G
• LRG_274t1:c.817+2T>G
• LRG_274:g.22309T>G
• NC_000019.9:g.11217365T>G
• NM_000527.4:c.817+2T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs879254686

NCBI 1000 Genomes Browser:

rs879254686

Molecular consequence:

• NM_001195800.2:c.314-703T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.817+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195798.2:c.817+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195799.2:c.694+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195803.2:c.436+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]