ClinVar

NM_000527.5(LDLR):c.1287G>C (p.Val429=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113378 (on Assembly GRCh38)
• Chr19: 11224054 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1287G>C (p.Val429=)

HGVS:

• NC_000019.10:g.11113378G>C
• NG_009060.1:g.28998G>C
• NM_000527.5:c.1287G>CMANE SELECT
• NM_001195798.2:c.1287G>C
• NM_001195799.2:c.1164G>C
• NM_001195800.2:c.783G>C
• NM_001195803.2:c.906G>C
• NP_000518.1:p.Val429=
• NP_000518.1:p.Val429=
• NP_001182727.1:p.Val429=
• NP_001182728.1:p.Val388=
• NP_001182729.1:p.Val261=
• NP_001182732.1:p.Val302=
• LRG_274t1:c.1287G>C
• LRG_274:g.28998G>C
• LRG_274p1:p.Val429=
• NC_000019.9:g.11224054G>C
• NM_000527.4:c.1287G>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_000527.5:c.1287G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1287G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1164G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.783G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.906G>C - synonymous variant - [Sequence Ontology: SO:0001819]