ClinVar

NM_000527.5(LDLR):c.394C>A (p.Arg132=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105300 (on Assembly GRCh38)
• Chr19: 11215976 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.394C>A (p.Arg132=)

HGVS:

• NC_000019.10:g.11105300C>A
• NG_009060.1:g.20920C>A
• NG_140410.1:g.517C>A
• NM_000527.5:c.394C>AMANE SELECT
• NM_001195798.2:c.394C>A
• NM_001195799.2:c.271C>A
• NM_001195800.2:c.314-2092C>A
• NM_001195803.2:c.314-1265C>A
• NP_000518.1:p.Arg132=
• NP_000518.1:p.Arg132=
• NP_001182727.1:p.Arg132=
• NP_001182728.1:p.Arg91=
• LRG_274t1:c.394C>A
• LRG_274:g.20920C>A
• LRG_274p1:p.Arg132=
• NC_000019.9:g.11215976C>A
• NM_000527.4:c.394C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001195800.2:c.314-2092C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1265C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.394C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.394C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.271C>A - synonymous variant - [Sequence Ontology: SO:0001819]