ClinVar

NM_000527.5(LDLR):c.1725C>T (p.Leu575=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11116878 (on Assembly GRCh38)
• Chr19: 11227554 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1725C>T (p.Leu575=)

HGVS:

• NC_000019.10:g.11116878C>T
• NG_009060.1:g.32498C>T
• NM_000527.5:c.1725C>TMANE SELECT
• NM_001195798.2:c.1725C>T
• NM_001195799.2:c.1602C>T
• NM_001195800.2:c.1221C>T
• NM_001195803.2:c.1344C>T
• NP_000518.1:p.Leu575=
• NP_000518.1:p.Leu575=
• NP_001182727.1:p.Leu575=
• NP_001182728.1:p.Leu534=
• NP_001182729.1:p.Leu407=
• NP_001182732.1:p.Leu448=
• LRG_274t1:c.1725C>T
• LRG_274:g.32498C>T
• LRG_274p1:p.Leu575=
• NC_000019.9:g.11227554C>T
• NM_000527.4:c.1725C>T
• c.1725C>T
• p.Leu575Leu

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001189; dbSNP: rs1799898

NCBI 1000 Genomes Browser:

rs1799898

Molecular consequence:

• NM_000527.5:c.1725C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1725C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1602C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1221C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1344C>T - synonymous variant - [Sequence Ontology: SO:0001819]