ClinVar

NM_003383.5(VLDLR):c.24G>A (p.Ala8=)

Genes:

LOC130001468:ATAC-STARR-seq lymphoblastoid silent region 19733 [Gene]
VLDLR-AS1:VLDLR antisense RNA 1 [Gene - HGNC]
VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.2

Genomic location:

• Chr9: 2622213 (on Assembly GRCh38)
• Chr9: 2622213 (on Assembly GRCh37)

Preferred name:

NM_003383.5(VLDLR):c.24G>A (p.Ala8=)

HGVS:

• NC_000009.12:g.2622213G>A
• NG_012741.1:g.5421G>A
• NM_001018056.3:c.24G>A
• NM_001322225.2:c.24G>A
• NM_001322226.2:c.24G>A
• NM_003383.5:c.24G>AMANE SELECT
• NP_001018066.1:p.Ala8=
• NP_001309154.1:p.Ala8=
• NP_001309155.1:p.Ala8=
• NP_003374.3:p.Ala8=
• NC_000009.11:g.2622213G>A
• NM_003383.3:c.24G>A
• NM_003383.4:c.24G>A
• NR_015375.2:n.161C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs34336270

NCBI 1000 Genomes Browser:

rs34336270

Molecular consequence:

• NR_015375.2:n.161C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001018056.3:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322225.2:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322226.2:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003383.5:c.24G>A - synonymous variant - [Sequence Ontology: SO:0001819]