ClinVar

NM_000527.5(LDLR):c.1752C>T (p.Ser584=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116905 (on Assembly GRCh38)
• Chr19: 11227581 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1752C>T (p.Ser584=)

HGVS:

• NC_000019.10:g.11116905C>T
• NG_009060.1:g.32525C>T
• NM_000527.5:c.1752C>TMANE SELECT
• NM_001195798.2:c.1752C>T
• NM_001195799.2:c.1629C>T
• NM_001195800.2:c.1248C>T
• NM_001195803.2:c.1371C>T
• NP_000518.1:p.Ser584=
• NP_001182727.1:p.Ser584=
• NP_001182728.1:p.Ser543=
• NP_001182729.1:p.Ser416=
• NP_001182732.1:p.Ser457=
• LRG_274:g.32525C>T
• NC_000019.9:g.11227581C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2077472678

NCBI 1000 Genomes Browser:

rs2077472678

Molecular consequence:

• NM_000527.5:c.1752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1629C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1248C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1371C>T - synonymous variant - [Sequence Ontology: SO:0001819]