ClinVar

NM_000527.5(LDLR):c.399C>T (p.Asp133=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105305 (on Assembly GRCh38)
• Chr19: 11215981 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.399C>T (p.Asp133=)

HGVS:

• NC_000019.10:g.11105305C>T
• NG_009060.1:g.20925C>T
• NM_000527.5:c.399C>TMANE SELECT
• NM_001195798.2:c.399C>T
• NM_001195799.2:c.276C>T
• NM_001195800.2:c.314-2087C>T
• NM_001195803.2:c.314-1260C>T
• NP_000518.1:p.Asp133=
• NP_001182727.1:p.Asp133=
• NP_001182728.1:p.Asp92=
• LRG_274t1:c.399C>T
• LRG_274:g.20925C>T
• NC_000019.9:g.11215981C>T
• NM_000527.4:c.399C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2077269856

NCBI 1000 Genomes Browser:

rs2077269856

Molecular consequence:

• NM_001195800.2:c.314-2087C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1260C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.399C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.399C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1