ClinVar

NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113590 (on Assembly GRCh38)
• Chr19: 11224266 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)

HGVS:

• NC_000019.10:g.11113590G>A
• NG_009060.1:g.29210G>A
• NM_000527.5:c.1414G>AMANE SELECT
• NM_001195798.2:c.1414G>A
• NM_001195799.2:c.1291G>A
• NM_001195800.2:c.910G>A
• NM_001195803.2:c.1033G>A
• NP_000518.1:p.Asp472Asn
• NP_000518.1:p.Asp472Asn
• NP_001182727.1:p.Asp472Asn
• NP_001182728.1:p.Asp431Asn
• NP_001182729.1:p.Asp304Asn
• NP_001182732.1:p.Asp345Asn
• LRG_274t1:c.1414G>A
• LRG_274:g.29210G>A
• LRG_274p1:p.Asp472Asn
• NC_000019.9:g.11224266G>A
• NM_000527.4:c.1414G>A

This HGVS expression did not pass validation

Protein change:

D304N

Links:

dbSNP: rs730882102

NCBI 1000 Genomes Browser:

rs730882102

Molecular consequence:

• NM_000527.5:c.1414G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1414G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1291G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.910G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1033G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1