ClinVar

NM_000527.5(LDLR):c.1483C>T (p.Leu495=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113659 (on Assembly GRCh38)
• Chr19: 11224335 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1483C>T (p.Leu495=)

HGVS:

• NC_000019.10:g.11113659C>T
• NG_009060.1:g.29279C>T
• NM_000527.5:c.1483C>TMANE SELECT
• NM_001195798.2:c.1483C>T
• NM_001195799.2:c.1360C>T
• NM_001195800.2:c.979C>T
• NM_001195803.2:c.1102C>T
• NP_000518.1:p.Leu495=
• NP_001182727.1:p.Leu495=
• NP_001182728.1:p.Leu454=
• NP_001182729.1:p.Leu327=
• NP_001182732.1:p.Leu368=
• LRG_274:g.29279C>T
• NC_000019.9:g.11224335C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2077418963

NCBI 1000 Genomes Browser:

rs2077418963

Molecular consequence:

• NM_000527.5:c.1483C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1483C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1360C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.979C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1102C>T - synonymous variant - [Sequence Ontology: SO:0001819]