ClinVar

NM_000527.5(LDLR):c.347G>A (p.Cys116Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105253 (on Assembly GRCh38)
• Chr19: 11215929 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.347G>A (p.Cys116Tyr)

HGVS:

• NC_000019.10:g.11105253G>A
• NG_009060.1:g.20873G>A
• NM_000527.5:c.347G>AMANE SELECT
• NM_001195798.2:c.347G>A
• NM_001195799.2:c.224G>A
• NM_001195800.2:c.314-2139G>A
• NM_001195803.2:c.314-1312G>A
• NP_000518.1:p.Cys116Tyr
• NP_001182727.1:p.Cys116Tyr
• NP_001182728.1:p.Cys75Tyr
• LRG_274t1:c.347G>A
• LRG_274:g.20873G>A
• NC_000019.9:g.11215929G>A
• NM_000527.4:c.347G>A

This HGVS expression did not pass validation

Protein change:

C116Y

Links:

dbSNP: rs879254485

NCBI 1000 Genomes Browser:

rs879254485

Molecular consequence:

• NM_001195800.2:c.314-2139G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1312G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.224G>A - missense variant - [Sequence Ontology: SO:0001583]