ClinVar

NM_000527.5(LDLR):c.363C>T (p.Cys121=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105269 (on Assembly GRCh38)
• Chr19: 11215945 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.363C>T (p.Cys121=)

HGVS:

• NC_000019.10:g.11105269C>T
• NG_009060.1:g.20889C>T
• NM_000527.5:c.363C>TMANE SELECT
• NM_001195798.2:c.363C>T
• NM_001195799.2:c.240C>T
• NM_001195800.2:c.314-2123C>T
• NM_001195803.2:c.314-1296C>T
• NP_000518.1:p.Cys121=
• NP_001182727.1:p.Cys121=
• NP_001182728.1:p.Cys80=
• LRG_274:g.20889C>T
• NC_000019.9:g.11215945C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555803191

NCBI 1000 Genomes Browser:

rs1555803191

Molecular consequence:

• NM_001195800.2:c.314-2123C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1296C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.363C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.363C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.240C>T - synonymous variant - [Sequence Ontology: SO:0001819]