ClinVar

NM_000527.5(LDLR):c.2014C>T (p.Leu672=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120396 (on Assembly GRCh38)
• Chr19: 11231072 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2014C>T (p.Leu672=)

HGVS:

• NC_000019.10:g.11120396C>T
• NG_009060.1:g.36016C>T
• NM_000527.5:c.2014C>TMANE SELECT
• NM_001195798.2:c.2014C>T
• NM_001195799.2:c.1891C>T
• NM_001195800.2:c.1510C>T
• NM_001195803.2:c.1606+163C>T
• NP_000518.1:p.Leu672=
• NP_000518.1:p.Leu672=
• NP_001182727.1:p.Leu672=
• NP_001182728.1:p.Leu631=
• NP_001182729.1:p.Leu504=
• LRG_274t1:c.2014C>T
• LRG_274:g.36016C>T
• LRG_274p1:p.Leu672=
• NC_000019.9:g.11231072C>T
• NM_000527.4:c.2014C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001195803.2:c.1606+163C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.2014C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1510C>T - synonymous variant - [Sequence Ontology: SO:0001819]