ClinVar

NM_000527.5(LDLR):c.2116A>G (p.Arg706Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120498 (on Assembly GRCh38)
• Chr19: 11231174 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2116A>G (p.Arg706Gly)

HGVS:

• NC_000019.10:g.11120498A>G
• NG_009060.1:g.36118A>G
• NM_000527.5:c.2116A>GMANE SELECT
• NM_001195798.2:c.2116A>G
• NM_001195799.2:c.1993A>G
• NM_001195800.2:c.1612A>G
• NM_001195803.2:c.1606+265A>G
• NP_000518.1:p.Arg706Gly
• NP_000518.1:p.Arg706Gly
• NP_001182727.1:p.Arg706Gly
• NP_001182728.1:p.Arg665Gly
• NP_001182729.1:p.Arg538Gly
• LRG_274t1:c.2116A>G
• LRG_274:g.36118A>G
• LRG_274p1:p.Arg706Gly
• NC_000019.9:g.11231174A>G
• NM_000527.4:c.2116A>G

This HGVS expression did not pass validation

Protein change:

R538G

Links:

dbSNP: rs730882112

NCBI 1000 Genomes Browser:

rs730882112

Molecular consequence:

• NM_001195803.2:c.1606+265A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2116A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2116A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.1993A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1612A>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense