ClinVar

NM_000527.5(LDLR):c.1406T>A (p.Ile469Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113582 (on Assembly GRCh38)
• Chr19: 11224258 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1406T>A (p.Ile469Asn)

HGVS:

• NC_000019.10:g.11113582T>A
• NG_009060.1:g.29202T>A
• NM_000527.5:c.1406T>AMANE SELECT
• NM_001195798.2:c.1406T>A
• NM_001195799.2:c.1283T>A
• NM_001195800.2:c.902T>A
• NM_001195803.2:c.1025T>A
• NP_000518.1:p.Ile469Asn
• NP_001182727.1:p.Ile469Asn
• NP_001182728.1:p.Ile428Asn
• NP_001182729.1:p.Ile301Asn
• NP_001182732.1:p.Ile342Asn
• LRG_274t1:c.1406T>A
• LRG_274:g.29202T>A
• NC_000019.9:g.11224258T>A
• NM_000527.4:c.1406T>A

This HGVS expression did not pass validation

Protein change:

I301N

Links:

dbSNP: rs2077415798

NCBI 1000 Genomes Browser:

rs2077415798

Molecular consequence:

• NM_000527.5:c.1406T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1406T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1283T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.902T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1025T>A - missense variant - [Sequence Ontology: SO:0001583]