ClinVar

NM_000527.5(LDLR):c.288C>T (p.Asp96=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11102761 (on Assembly GRCh38)
• Chr19: 11213437 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.288C>T (p.Asp96=)

HGVS:

• NC_000019.10:g.11102761C>T
• NG_009060.1:g.18381C>T
• NG_140409.1:g.656C>T
• NM_000527.5:c.288C>TMANE SELECT
• NM_001195798.2:c.288C>T
• NM_001195799.2:c.190+2416C>T
• NM_001195800.2:c.288C>T
• NM_001195803.2:c.288C>T
• NM_001406861.1:c.546C>T
• NP_000518.1:p.Asp96=
• NP_000518.1:p.Asp96=
• NP_001182727.1:p.Asp96=
• NP_001182729.1:p.Asp96=
• NP_001182732.1:p.Asp96=
• NP_001393790.1:p.Asp182=
• LRG_274t1:c.288C>T
• LRG_274:g.18381C>T
• LRG_274p1:p.Asp96=
• NC_000019.9:g.11213437C>T
• NM_000527.4:c.288C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001195799.2:c.190+2416C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406861.1:c.546C>T - synonymous variant - [Sequence Ontology: SO:0001819]