ClinVar

NM_000527.5(LDLR):c.2250C>A (p.Ser750=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11123283 (on Assembly GRCh38)
• Chr19: 11233959 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2250C>A (p.Ser750=)

HGVS:

• NC_000019.10:g.11123283C>A
• NG_009060.1:g.38903C>A
• NM_000527.5:c.2250C>AMANE SELECT
• NM_001195798.2:c.2250C>A
• NM_001195799.2:c.2127C>A
• NM_001195800.2:c.1746C>A
• NM_001195803.2:c.1716C>A
• NP_000518.1:p.Ser750=
• NP_001182727.1:p.Ser750=
• NP_001182728.1:p.Ser709=
• NP_001182729.1:p.Ser582=
• NP_001182732.1:p.Ser572=
• LRG_274:g.38903C>A
• NC_000019.9:g.11233959C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1280804630

NCBI 1000 Genomes Browser:

rs1280804630

Molecular consequence:

• NM_000527.5:c.2250C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.2250C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.2127C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1746C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1716C>A - synonymous variant - [Sequence Ontology: SO:0001819]