ClinVar

NM_000527.5(LDLR):c.1530G>A (p.Thr510=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11113706 (on Assembly GRCh38)
• Chr19: 11224382 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.1530G>A (p.Thr510=)

HGVS:

• NC_000019.10:g.11113706G>A
• NG_009060.1:g.29326G>A
• NM_000527.5:c.1530G>AMANE SELECT
• NM_001195798.2:c.1530G>A
• NM_001195799.2:c.1407G>A
• NM_001195800.2:c.1026G>A
• NM_001195803.2:c.1149G>A
• NP_000518.1:p.Thr510=
• NP_000518.1:p.Thr510=
• NP_001182727.1:p.Thr510=
• NP_001182728.1:p.Thr469=
• NP_001182729.1:p.Thr342=
• NP_001182732.1:p.Thr383=
• LRG_274t1:c.1530G>A
• LRG_274:g.29326G>A
• LRG_274p1:p.Thr510=
• NC_000019.9:g.11224382G>A
• NM_000527.4:c.1530G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs367655096

NCBI 1000 Genomes Browser:

rs367655096

Molecular consequence:

• NM_000527.5:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1407G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1026G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195803.2:c.1149G>A - synonymous variant - [Sequence Ontology: SO:0001819]