ClinVar

NM_000527.5(LDLR):c.378C>T (p.Phe126=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105284 (on Assembly GRCh38)
• Chr19: 11215960 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.378C>T (p.Phe126=)

HGVS:

• NC_000019.10:g.11105284C>T
• NG_009060.1:g.20904C>T
• NM_000527.5:c.378C>TMANE SELECT
• NM_001195798.2:c.378C>T
• NM_001195799.2:c.255C>T
• NM_001195800.2:c.314-2108C>T
• NM_001195803.2:c.314-1281C>T
• NP_000518.1:p.Phe126=
• NP_000518.1:p.Phe126=
• NP_001182727.1:p.Phe126=
• NP_001182728.1:p.Phe85=
• LRG_274t1:c.378C>T
• LRG_274:g.20904C>T
• LRG_274p1:p.Phe126=
• NC_000019.9:g.11215960C>T
• NM_000527.4:c.378C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs762139262

NCBI 1000 Genomes Browser:

rs762139262

Molecular consequence:

• NM_001195800.2:c.314-2108C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1281C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.255C>T - synonymous variant - [Sequence Ontology: SO:0001819]