ClinVar

NM_000527.5(LDLR):c.255G>A (p.Gln85=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11102728 (on Assembly GRCh38)
• Chr19: 11213404 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.255G>A (p.Gln85=)

HGVS:

• NC_000019.10:g.11102728G>A
• NG_009060.1:g.18348G>A
• NM_000527.5:c.255G>AMANE SELECT
• NM_001195798.2:c.255G>A
• NM_001195799.2:c.190+2383G>A
• NM_001195800.2:c.255G>A
• NM_001195803.2:c.255G>A
• NP_000518.1:p.Gln85=
• NP_001182727.1:p.Gln85=
• NP_001182729.1:p.Gln85=
• NP_001182732.1:p.Gln85=
• LRG_274:g.18348G>A
• NC_000019.9:g.11213404G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs879254450

NCBI 1000 Genomes Browser:

rs879254450

Molecular consequence:

• NM_001195799.2:c.190+2383G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.255G>A - synonymous variant - [Sequence Ontology: SO:0001819]