ClinVar

NM_000527.5(LDLR):c.1356C>T (p.Cys452=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113447 (on Assembly GRCh38)
• Chr19: 11224123 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1356C>T (p.Cys452=)

Other names:

C452C

HGVS:

• NC_000019.10:g.11113447C>T
• NG_009060.1:g.29067C>T
• NM_000527.5:c.1356C>TMANE SELECT
• NM_001195798.2:c.1356C>T
• NM_001195799.2:c.1233C>T
• NM_001195800.2:c.852C>T
• NM_001195803.2:c.975C>T
• NP_000518.1:p.Cys452=
• NP_000518.1:p.Cys452=
• NP_001182727.1:p.Cys452=
• NP_001182728.1:p.Cys411=
• NP_001182729.1:p.Cys284=
• NP_001182732.1:p.Cys325=
• LRG_274t1:c.1356C>T
• LRG_274:g.29067C>T
• LRG_274p1:p.Cys452=
• NC_000019.9:g.11224123C>T
• NM_000527.4:c.1356C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs137853961

NCBI 1000 Genomes Browser:

rs137853961

Molecular consequence:

• NM_000527.5:c.1356C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1356C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1233C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.852C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.975C>T - synonymous variant - [Sequence Ontology: SO:0001819]