ClinVar

NM_000527.5(LDLR):c.417C>A (p.Asp139Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105323 (on Assembly GRCh38)
• Chr19: 11215999 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.417C>A (p.Asp139Glu)

HGVS:

• NC_000019.10:g.11105323C>A
• NG_009060.1:g.20943C>A
• NM_000527.5:c.417C>AMANE SELECT
• NM_001195798.2:c.417C>A
• NM_001195799.2:c.294C>A
• NM_001195800.2:c.314-2069C>A
• NM_001195803.2:c.314-1242C>A
• NP_000518.1:p.Asp139Glu
• NP_000518.1:p.Asp139Glu
• NP_001182727.1:p.Asp139Glu
• NP_001182728.1:p.Asp98Glu
• LRG_274t1:c.417C>A
• LRG_274:g.20943C>A
• LRG_274p1:p.Asp139Glu
• NC_000019.9:g.11215999C>A
• NM_000527.4:c.417C>A

This HGVS expression did not pass validation

Protein change:

D139E

Links:

dbSNP: rs537484504

NCBI 1000 Genomes Browser:

rs537484504

Molecular consequence:

• NM_001195800.2:c.314-2069C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1242C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.417C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.417C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.294C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1