ClinVar

NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11128016 (on Assembly GRCh38)
• Chr19: 11238692 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)

HGVS:

• NC_000019.10:g.11128016G>A
• NG_009060.1:g.43636G>A
• NM_000527.5:c.2320G>AMANE SELECT
• NM_001195798.2:c.2320G>A
• NM_001195799.2:c.2197G>A
• NM_001195800.2:c.1816G>A
• NM_001195803.2:c.1786G>A
• NP_000518.1:p.Asp774Asn
• NP_000518.1:p.Asp774Asn
• NP_001182727.1:p.Asp774Asn
• NP_001182728.1:p.Asp733Asn
• NP_001182729.1:p.Asp606Asn
• NP_001182732.1:p.Asp596Asn
• LRG_274t1:c.2320G>A
• LRG_274:g.43636G>A
• LRG_274p1:p.Asp774Asn
• NC_000019.9:g.11238692G>A
• NM_000527.4:c.2320G>A

This HGVS expression did not pass validation

Protein change:

D596N

Links:

dbSNP: rs138190838

NCBI 1000 Genomes Browser:

rs138190838

Molecular consequence:

• NM_000527.5:c.2320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1816G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1786G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1