ClinVar

NM_000527.5(LDLR):c.815A>C (p.Asn272Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11106685 (on Assembly GRCh38)
• Chr19: 11217361 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.815A>C (p.Asn272Thr)

HGVS:

• NC_000019.10:g.11106685A>C
• NG_009060.1:g.22305A>C
• NM_000527.5:c.815A>CMANE SELECT
• NM_001195798.2:c.815A>C
• NM_001195799.2:c.692A>C
• NM_001195800.2:c.314-707A>C
• NM_001195803.2:c.434A>C
• NP_000518.1:p.Asn272Thr
• NP_000518.1:p.Asn272Thr
• NP_001182727.1:p.Asn272Thr
• NP_001182728.1:p.Asn231Thr
• NP_001182732.1:p.Asn145Thr
• LRG_274t1:c.815A>C
• LRG_274:g.22305A>C
• LRG_274p1:p.Asn272Thr
• NC_000019.9:g.11217361A>C
• NM_000527.4:c.815A>C
• NM_000527.5:c.815A>C
• c.815A>C

This HGVS expression did not pass validation

Protein change:

N145T

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001216; dbSNP: rs202213054

NCBI 1000 Genomes Browser:

rs202213054

Molecular consequence:

• NM_001195800.2:c.314-707A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.815A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.815A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.692A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.434A>C - missense variant - [Sequence Ontology: SO:0001583]