ClinVar

NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11123275 (on Assembly GRCh38)
• Chr19: 11233951 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)

Other names:

NP_000518.1:p.D748N

HGVS:

• NC_000019.10:g.11123275G>A
• NG_009060.1:g.38895G>A
• NM_000527.5:c.2242G>AMANE SELECT
• NM_001195798.2:c.2242G>A
• NM_001195799.2:c.2119G>A
• NM_001195800.2:c.1738G>A
• NM_001195803.2:c.1708G>A
• NP_000518.1:p.Asp748Asn
• NP_000518.1:p.Asp748Asn
• NP_001182727.1:p.Asp748Asn
• NP_001182728.1:p.Asp707Asn
• NP_001182729.1:p.Asp580Asn
• NP_001182732.1:p.Asp570Asn
• LRG_274t1:c.2242G>A
• LRG_274:g.38895G>A
• LRG_274p1:p.Asp748Asn
• NC_000019.9:g.11233951G>A
• NM_000527.4:c.2242G>A
• c.2242G>A

This HGVS expression did not pass validation

Protein change:

D570N

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000290; dbSNP: rs150104358

NCBI 1000 Genomes Browser:

rs150104358

Molecular consequence:

• NM_000527.5:c.2242G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2242G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1738G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1708G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

unknown functional consequence - Comment(s)

• unclear