ClinVar

NM_000527.5(LDLR):c.1294C>T (p.Leu432=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113385 (on Assembly GRCh38)
• Chr19: 11224061 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1294C>T (p.Leu432=)

HGVS:

• NC_000019.10:g.11113385C>T
• NG_009060.1:g.29005C>T
• NM_000527.5:c.1294C>TMANE SELECT
• NM_001195798.2:c.1294C>T
• NM_001195799.2:c.1171C>T
• NM_001195800.2:c.790C>T
• NM_001195803.2:c.913C>T
• NP_000518.1:p.Leu432=
• NP_001182727.1:p.Leu432=
• NP_001182728.1:p.Leu391=
• NP_001182729.1:p.Leu264=
• NP_001182732.1:p.Leu305=
• LRG_274:g.29005C>T
• NC_000019.9:g.11224061C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs730882100

NCBI 1000 Genomes Browser:

rs730882100

Molecular consequence:

• NM_000527.5:c.1294C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1294C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1171C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.790C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.913C>T - synonymous variant - [Sequence Ontology: SO:0001819]