ClinVar

NM_000527.5(LDLR):c.2010C>T (p.Thr670=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120392 (on Assembly GRCh38)
• Chr19: 11231068 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2010C>T (p.Thr670=)

HGVS:

• NC_000019.10:g.11120392C>T
• NG_009060.1:g.36012C>T
• NM_000527.5:c.2010C>TMANE SELECT
• NM_001195798.2:c.2010C>T
• NM_001195799.2:c.1887C>T
• NM_001195800.2:c.1506C>T
• NM_001195803.2:c.1606+159C>T
• NP_000518.1:p.Thr670=
• NP_000518.1:p.Thr670=
• NP_001182727.1:p.Thr670=
• NP_001182728.1:p.Thr629=
• NP_001182729.1:p.Thr502=
• LRG_274t1:c.2010C>T
• LRG_274:g.36012C>T
• LRG_274p1:p.Thr670=
• NC_000019.9:g.11231068C>T
• NM_000527.4:c.2010C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001195803.2:c.1606+159C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2010C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.2010C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1887C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1506C>T - synonymous variant - [Sequence Ontology: SO:0001819]