ClinVar

NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113751 (on Assembly GRCh38)
• Chr19: 11224427 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu)

HGVS:

• NC_000019.10:g.11113751T>G
• NG_009060.1:g.29371T>G
• NM_000527.5:c.1575T>GMANE SELECT
• NM_001195798.2:c.1575T>G
• NM_001195799.2:c.1452T>G
• NM_001195800.2:c.1071T>G
• NM_001195803.2:c.1194T>G
• NP_000518.1:p.Asp525Glu
• NP_001182727.1:p.Asp525Glu
• NP_001182728.1:p.Asp484Glu
• NP_001182729.1:p.Asp357Glu
• NP_001182732.1:p.Asp398Glu
• LRG_274t1:c.1575T>G
• LRG_274:g.29371T>G
• NC_000019.9:g.11224427T>G
• NC_000019.9:g.11224427T>G
• NM_000527.4:c.1575T>G

This HGVS expression did not pass validation

Protein change:

D357E

Links:

dbSNP: rs763884010

NCBI 1000 Genomes Browser:

rs763884010

Molecular consequence:

• NM_000527.5:c.1575T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1575T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1452T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1071T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1194T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1