ClinVar

NM_000527.5(LDLR):c.1214A>C (p.Asn405Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113305 (on Assembly GRCh38)
• Chr19: 11223981 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1214A>C (p.Asn405Thr)

HGVS:

• NC_000019.10:g.11113305A>C
• NG_009060.1:g.28925A>C
• NM_000527.5:c.1214A>CMANE SELECT
• NM_001195798.2:c.1214A>C
• NM_001195799.2:c.1091A>C
• NM_001195800.2:c.710A>C
• NM_001195803.2:c.833A>C
• NP_000518.1:p.Asn405Thr
• NP_001182727.1:p.Asn405Thr
• NP_001182728.1:p.Asn364Thr
• NP_001182729.1:p.Asn237Thr
• NP_001182732.1:p.Asn278Thr
• LRG_274:g.28925A>C
• NC_000019.9:g.11223981A>C
• c.1214A>C

This HGVS expression did not pass validation

Protein change:

N237T

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001378; dbSNP: rs879254836

NCBI 1000 Genomes Browser:

rs879254836

Molecular consequence:

• NM_000527.5:c.1214A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1214A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1091A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.710A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.833A>C - missense variant - [Sequence Ontology: SO:0001583]