ClinVar

NM_000527.5(LDLR):c.939C>T (p.Cys313=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11107513 (on Assembly GRCh38)
• Chr19: 11218189 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.939C>T (p.Cys313=)

HGVS:

• NC_000019.10:g.11107513C>T
• NG_009060.1:g.23133C>T
• NM_000527.5:c.939C>TMANE SELECT
• NM_001195798.2:c.939C>T
• NM_001195799.2:c.816C>T
• NM_001195800.2:c.435C>T
• NM_001195803.2:c.558C>T
• NP_000518.1:p.Cys313=
• NP_000518.1:p.Cys313=
• NP_001182727.1:p.Cys313=
• NP_001182728.1:p.Cys272=
• NP_001182729.1:p.Cys145=
• NP_001182732.1:p.Cys186=
• LRG_274t1:c.939C>T
• LRG_274:g.23133C>T
• LRG_274p1:p.Cys313=
• NC_000019.9:g.11218189C>T
• NM_000527.4:c.939C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000527.5:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.939C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.435C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]