ClinVar

NM_000527.5(LDLR):c.1283A>G (p.Asn428Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113374 (on Assembly GRCh38)
• Chr19: 11224050 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1283A>G (p.Asn428Ser)

HGVS:

• NC_000019.10:g.11113374A>G
• NG_009060.1:g.28994A>G
• NM_000527.5:c.1283A>GMANE SELECT
• NM_001195798.2:c.1283A>G
• NM_001195799.2:c.1160A>G
• NM_001195800.2:c.779A>G
• NM_001195803.2:c.902A>G
• NP_000518.1:p.Asn428Ser
• NP_001182727.1:p.Asn428Ser
• NP_001182728.1:p.Asn387Ser
• NP_001182729.1:p.Asn260Ser
• NP_001182732.1:p.Asn301Ser
• LRG_274:g.28994A>G
• NC_000019.9:g.11224050A>G
• c.1283A>G

This HGVS expression did not pass validation

Protein change:

N260S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001174; dbSNP: rs879254852

NCBI 1000 Genomes Browser:

rs879254852

Molecular consequence:

• NM_000527.5:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.1283A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.902A>G - missense variant - [Sequence Ontology: SO:0001583]