ClinVar

NM_000527.5(LDLR):c.2346G>C (p.Lys782Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11128042 (on Assembly GRCh38)
• Chr19: 11238718 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2346G>C (p.Lys782Asn)

HGVS:

• NC_000019.10:g.11128042G>C
• NG_009060.1:g.43662G>C
• NM_000527.5:c.2346G>CMANE SELECT
• NM_001195798.2:c.2346G>C
• NM_001195799.2:c.2223G>C
• NM_001195800.2:c.1842G>C
• NM_001195803.2:c.1812G>C
• NP_000518.1:p.Lys782Asn
• NP_000518.1:p.Lys782Asn
• NP_001182727.1:p.Lys782Asn
• NP_001182728.1:p.Lys741Asn
• NP_001182729.1:p.Lys614Asn
• NP_001182732.1:p.Lys604Asn
• LRG_274t1:c.2346G>C
• LRG_274:g.43662G>C
• LRG_274p1:p.Lys782Asn
• NC_000019.9:g.11238718G>C
• NM_000527.4:c.2346G>C

This HGVS expression did not pass validation

Protein change:

K604N

Links:

dbSNP: rs1057519688

NCBI 1000 Genomes Browser:

rs1057519688

Molecular consequence:

• NM_000527.5:c.2346G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2346G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.2223G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1842G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1812G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1