ClinVar

NM_000527.5(LDLR):c.507C>T (p.Asn169=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105413 (on Assembly GRCh38)
• Chr19: 11216089 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.507C>T (p.Asn169=)

HGVS:

• NC_000019.10:g.11105413C>T
• NG_009060.1:g.21033C>T
• NM_000527.5:c.507C>TMANE SELECT
• NM_001195798.2:c.507C>T
• NM_001195799.2:c.384C>T
• NM_001195800.2:c.314-1979C>T
• NM_001195803.2:c.314-1152C>T
• NP_000518.1:p.Asn169=
• NP_000518.1:p.Asn169=
• NP_001182727.1:p.Asn169=
• NP_001182728.1:p.Asn128=
• LRG_274t1:c.507C>T
• LRG_274:g.21033C>T
• LRG_274p1:p.Asn169=
• NC_000019.9:g.11216089C>T
• NM_000527.4:c.507C>T
• c.507C>T

This HGVS expression did not pass validation

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000067; dbSNP: rs146354103

NCBI 1000 Genomes Browser:

rs146354103

Molecular consequence:

• NM_001195800.2:c.314-1979C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1152C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.507C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.507C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.384C>T - synonymous variant - [Sequence Ontology: SO:0001819]