ClinVar

NM_000527.5(LDLR):c.330C>G (p.Ser110=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11105236 (on Assembly GRCh38)
• Chr19: 11215912 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.330C>G (p.Ser110=)

HGVS:

• NC_000019.10:g.11105236C>G
• NG_009060.1:g.20856C>G
• NM_000527.5:c.330C>GMANE SELECT
• NM_001195798.2:c.330C>G
• NM_001195799.2:c.207C>G
• NM_001195800.2:c.314-2156C>G
• NM_001195803.2:c.314-1329C>G
• NP_000518.1:p.Ser110=
• NP_000518.1:p.Ser110=
• NP_001182727.1:p.Ser110=
• NP_001182728.1:p.Ser69=
• LRG_274t1:c.330C>G
• LRG_274:g.20856C>G
• LRG_274p1:p.Ser110=
• NC_000019.9:g.11215912C>G
• NM_000527.4:c.330C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs768109825

NCBI 1000 Genomes Browser:

rs768109825

Molecular consequence:

• NM_001195800.2:c.314-2156C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001195803.2:c.314-1329C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.330C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.330C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.207C>G - synonymous variant - [Sequence Ontology: SO:0001819]